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Objective: To investigate the influence of muscle energy technology (MET) combined with Maitland joint mobilization surgery on the elbow joint flexion function in patients with deep burn of elbow joint. Methods: A retrospective controlled clinical trial was conducted. From January 2020 to January 2022, 53 patients with elbow joint flexion dysfunction after deep burns who met the inclusion criteria were treated in Tongren Hospital of Wuhan University & Wuhan Third Hospital, including 32 males and 21 females, aged (37±12) years. According to the treatment method used, the patients were divided into conventional treatment alone group (15 cases), conventional treatment+joint mobilization surgery group (18 cases), and conventional treatment+joint mobilization surgery+MET group (20 cases). Before treatment and 2 months after treatment, the patient's elbow joint range of motion was measured using a protractor, the Mayo elbow joint function score was used to evaluate elbow joint function, a portable muscle strength tester was used to measure elbow extensor muscle strength, and visual analogue scale was used to evaluate pain degree. Data were statistically analyzed with one-way analysis of variance, least significant difference test, paired sample t test, Kruskal-Wallis H test, Wilcoxon signed rank-sum test, chi-square test, Fisher's exact probability test, and Bonferroni correction. Results: After two months of treatment, the elbow joint range of motion and elbow joint function scores of patients in conventional treatment+joint mobilization surgery group and conventional treatment+joint mobilization surgery+MET group ((103±12)° and 60 (50, 66), (131±14)° and 73 (65, 80)) were significantly larger and higher than those in conventional treatment alone group ((77±15)° and 45 (35, 50), P values all <0.05), respectively. The elbow joint range of motion and elbow joint function scores of patients in conventional treatment+joint mobilization surgery+MET group were significantly larger and higher than those in conventional treatment+joint mobilization surgery group ( P values all <0.05), respectively. After two months of treatment, the elbow extensor muscle strength and pain score of patients in conventional treatment+joint mobilization surgery+MET group were respectively significantly larger and lower than those in conventional treatment alone group and conventional treatment+joint mobilization surgery group ( P values all <0.05). The elbow extensor muscle strength and pain score of patients in conventional treatment+joint mobilization surgery group were similar to those in conventional treatment alone group ( P >0.05). The elbow joint range of motion and elbow extensor muscle strength (with t values of 9.37, 25.54, 28.71, 6.70, 7.20, and 7.01, respectively, P <0.05), elbow joint function scores and pain scores (with Z values of 3.15, 3.63, 3.93, 3.30, 3.52, and 3.84, respectively, P <0.05) of patients in conventional treatment alone group, conventional treatment+joint mobilization surgery group, and conventional treatment+joint mobilization surgery+MET group after two months of treatment were significantly improved compared with those before treatment. Conclusions: The combination of MET and Maitland joint mobilization surgery can effectively improve elbow joint range of motion, elbow joint function, elbow extensor muscle strength, and pain of patients with deep elbow joint burns, therefore it is worthy of promotion.

Objective: To explore the effects of bicycle ergometer rehabilitation training on quadriceps and walking ability of patients with lower limb dysfunction caused by extensive burns. Methods: A prospective randomized controlled study was conducted. A total of 40 patients with extensive burns who met the inclusion criteria and were admitted to Tongren Hospital of Wuhan University＆Wuhan Third Hospital from December 2017 to December 2020 were selected. According to the random number table, the patients were divided into conventional training group (16 males, 4 females, aged (45±10) years) and combined training group (13 males, 7 females, aged (39±8) years). Patients in conventional training group were given conventional rehabilitation therapy such as joint loosening, lower limb strength training, walking training, and pressure therapy, while patients in combined training group were given additional bicycle ergometer rehabilitation training on the basis of conventional rehabilitation. For patients in the 2 groups before and after a 2-month's treatment, the thickness of quadriceps was measured by ultrasonic diagnostic instrument, the muscle strength of quadriceps was measured by portable muscle strength tester, the walking ability was tested with a 6-min and a 10-meter walk tests, and the patients' satisfaction for treatment effects was assessed using the modified Likert scale. Data were statistically analyzed with independent or paired sample t test, Mann-Whitney U test, Wilcoxon signed rank test, or chi-square test. Results: After 2-month's treatment, the quadriceps thickness of patients in combined training group was (3.76±0.39) cm, which was significantly thicker than (3.45±0.35) cm in conventional training group ( t =2.67, P <0.05); quadriceps thickness of patients in conventional training group and combined training group after 2-month's treatment was significantly thicker than that before treatment (with t values of 5.99 and 8.62, respectively, P <0.01). After 2-month's treatment, the quadriceps muscle strength of patients in combined training group was significantly greater than that in conventional training group ( Z =2.69, P <0.01); quadriceps muscle strength of patients in conventional training group and combined training group after 2-month's treatment was significantly greater than that before treatment (with Z values of 3.92 and 3.92, respectively, P <0.01). After 2-month's treatment, the 6-min walking distance of patients in combined training group was (488±39) m, which was significantly longer than (429±25) m in conventional training group ( t =5.66, P <0.01); the 6-min walking distance of patients after 2-month's treatment in conventional training group and combined training group was significantly longer than that before treatment (with t values of 13.16 and 17.92, respectively, P <0.01). After 2-month's treatment, the 10-meter walking time of patients in combined training group was significantly shorter than that in conventional training group ( t =3.20, P <0.01); and the 10-meter walking time in conventional training group and combined training group was significantly shorter than that before treatment (with t values of 7.21 and 13.13, respectively, P <0.01). The patients' satisfaction score for treatment effects in combined training group was significantly higher than that in conventional training group ( Z =3.14, P <0.01), and the patients' satisfaction scores for treatment effects in conventional training group and combined training group after 2-month's treatment were significantly greater than those before treatment (with Z values of 3.98 and 4.04, respectively, P <0.01). Conclusions: Bicycle ergometer rehabilitation training can be used to improve quadriceps thickness, muscle strength, and walking ability of patients with lower limb dysfunction caused by extensive burns. It can also improve the satisfaction of patients with the treatment outcome, and therefore is worthy of promotion.

Objective: To observe the effects of balance training combined with routine training on patients with lower limb motor and balance dysfunctions after severe burns. Methods: A prospective randomized controlled study was conducted. From January 2016 to January 2020, sixty-four patients with lower limb motor and balance dysfunction after severe burns who met the inclusion criteria were admitted to Tongren Hospital of Wuhan University＆Wuhan Third Hospital. According to the random number table, the patients were divided into routine training (RT) group and combined training (CT) group. There were 32 cases in each group, 22 males and 10 females in RT group, aged 40.5 (35.5, 52.8) years, and 24 males and 8 females in CT group, aged 37.0 (30.0, 44.0) years. Patients in RT group performed conventional treatment including knee joint stretch, continuous passive motion, lower limb muscle strength training, and pressure therapy etc., while patients in CT group received balance training in addition to RT treatment including sitting balance, center of gravity transfer, pelvic stability, standing alternately on one leg, and standing on balance pad. Patients in both groups were treated for 4 months. Before treatment and after 4 months of treatment, the Berg Balance Scale, Lower Extremity Function Scale, and Activities-specific Balance Confidence Scale were used to evaluate the balance function, lower limb function, and balance activity self-confidence of patients respectively. Data were statistically analyzed with independent sample t test, paired sample t test, Mann-Whitney U test, Wilcoxon signed rank test or chi-square test. Results: Before treatment, the Berg balance score of patients in RT group was (25±9) points, which was similar to (25±7) points in CT group ( t =-0.154, P >0.05). After 4 months of treatment, the Berg balance score of patients in CT group was (43±6) points, which was significantly higher than (40±6) points in RT group ( t =2.028, P <0.05). The Berg balance scores of patients in RT and CT groups after 4 months of treatment were obviously higher than those before treatment ( t =-15.189, -26.200, P <0.01). Before treatment, the lower limb function score of patients in RT group was 25.0 (16.5, 30.0) points, which was similar to 23.0 (10.3, 28.8) points in CT group ( Z =-1.575, P >0.05). After 4 months of treatment, the lower limb function score of patients in CT group was 55.0 (35.0, 60.0) points, which was significantly higher than 43.0 (36.0, 53.0) points in RT group ( Z =-2.744, P <0.01). The lower limb function scores of patients in RT and CT groups after 4 months of treatment were obviously higher than those before treatment ( Z =-4.943, -4.955, P <0.01). Before treatment, the balance activity self-confidence scores of patients in the two groups were similar ( t =-0.966, P >0.05). After 4 months of treatment, the balance activity self-confidence scores of patients in CT group was significantly higher than that in RT group ( t =3.343, P <0.01). The balance activity self-confidence scores of patients in RT and CT groups after 4 months of treatment were obviously higher than those before treatment ( t =-19.611, -34.300, P <0.01). Conclusions: Conventional treatment combined with balance training for patients with lower limb motor and balance dysfunctions after severe burns can effectively promote the recovery of their lower limb motor and balance function.

Objective: To observe the rehabilitation effect of balance training on motor and balance function of lower extremities of deep burn patients. Methods: A prospective randomized controlled study was conducted. From January 2016 to January 2020, sixty-four patients with lower limb motor and balance dysfunction after deep burn were admitted to Tongren Hospital of Wuhan University＆Wuhan Third Hospital, the burn area was 30% to 70% Total Body Surface Area, and the burn depth of more than one hip, knee and ankle joint of both lower limbs and their periphery were deep second or third degree. According to the method of random number table, the patients were divided into routine training(RT) group and balance training(BT) group. There were 32 cases in each group, 22 males and 10 females in the RT group, aged 40.5 (35.5, 52.8) years old, and 24 males and 8 females in the BT group, aged 37.0 (30.0, 44.0) years old. Patients in group RT were conventionally conducted with knee joint stretch treatment, continuous passive motion treatment, lower limb muscle strength training and pressure therapy; while patients in group BT were conducted with balance training besides RT such as sitting balance, center of gravity transfer, pelvic stability, standing alternately on one leg and standing on balance pad. Patients in the 2 groups were treated for 4 months. Before treatment and after 4 months of treatment,Berg balance score, lower limb function score and balance activity self-confidence score were evaluated . The data were statistically analyzed with t test, Mann-Whitney U test, Wilcoxon signed rank test or χ ² test. Results: (1) Before treatment, the difference value of Berg balance score of patients in group RT was (25±9), which was similar to (25±7) in group BT( t =-0.154, P >0.05). After 4 months of treatment, the difference value of Berg balance score of patients in group BT was (43±6), which was higher than (40±6) in group RT ( t =2.028, P <0.05). The difference values of Berg balance scores of the patients in group RT and BT after 4 months of treatment were obviously higher than those before treatment( t =-15.189,-26.2, P <0.001). (2) Before treatment, the lower limb function score of patients in group RT was 25.0 (16.5,30.0), which was similar to 23.0(10.3,28.8) in group BT( Z =-1.575, P >0.05). After 4 months of treatment, the lower limb function score of patients in group BT was 55.0(35.0, 60.0) , which was significantly higher than 43.0 (36.0, 53.0) in group RT( Z =-2.744, P <0.01). The lower limb function scale of patients in group RT and BT after 4 months of treatment were obviously higher than those before treatment( Z =-4.943,-4.955, P <0.01). (3) Before treatment, the balance activity self-confidence scores of the two groups were similar( t =-0.966, P >0.05) . After 4 months of treatment , the balance activity self-confidence scores of patients in group ST was significantly higher than that in group RT ( t =3.343, P <0.01). The balance activity self-confidence scores of patients in groups RT and BT after 4 months of treatment were obviously higher than those before treatment( t =-19.611,-34.300, P <0.001). Conclusions: The balance training can effectively promote the recovery of lower limb motor and balance function on the basis of conventional rehabilitation treatment for patients with lower limb motor and balance dysfunction after deep burns.

Objective: To explore the relationship between fetal nuchal translucency (NT) in the first trimester and pregnancy outcome. Methods: A prospective cohort study was conducted in Nanjjing Drum Tower Hospital from December 2015 to December 2018, 4 958 singleton pregnant women were enrolled to screen fetal ultrasound structure and serology in the first trimester, ultrasound in the second trimester and neonatus physical examination 28 days after birth. According to the results of NT, 167 cases of fetus with increased NT (≥3.0 mm) and 4 791 cases of normal NT were divided, moreover, 86 cases with isolate increased NT and 81 cases of increased NT combined with structural abnormality. The prognosis of fetuses with different NT thickness was analyzed, and the pregnancy outcome of fetuses with isolate increased NT or combined with structural abnormality were analyzed. In the first trimester, if the fetal structure was abnormal or the serological screening result was high risk, the chromosomal microarray analysis (CMA) would be performed by chorionic villus sampling to determine the prenatal diagnosis. Results: (1) The pregnancy outcome for fetus of normal NT: there were 4 791 cases with normal NT. Totally, 4 726 cases with normal NT and no structural abnormalities were screened out in the firsttrimester. In this group, 5 cases of aneuploidies were diagnosed based on high risk of maternal serum biomarkers and 83 cases of structural abnormalities were screened out in the subsequent ultrasound scan and the neonatal examination. Another 65 cases with normal NT present complicated with structural anomalies were screened out in the first trimester and 4 cases were diagnosed as aneuploidies. (2) The pregnancy outcome for fetus of isolate increased NT: 66 (76.7%, 66/86) cases of isolated increased NT were performed CMA, 3 cases were diagnosed as trisomy 21 and terminated pregnancy. Another 4 cases were terminated pregnancy privately without cytogenetic diagnosis. No further anomalies were found in 79 cases till 6 to 21 months postnatally. (3) The pregnancy outcome for fetus of increased NT with structural anomalies: increased NT present with structural anomalies were screened out by detailed anomaly scan in the first trimester and 32 of them were confirmed as aneuploidies. In this group, 70 cases terminated pregnancy, 2 cases had spontaneous miscarriages and 9 cases had liveborns (1 newborn was found ventricular septal defect). (4) The pregnancy outcome for fetus of increased NT with or without structural anomalies: the percentage of aneuploidies in fetuses with isolated increased NT (3.5%, 3/86) was significantly lower than those with structural abnormalities (39.5%,32/81). The healthy survival rate in fetuses with isolated increased NT (91.9%,79/86) was significantly higher than those with structural abnormalities (9.9%, 8/81). Conclusions: A detailed first-trimester anomaly scan could improve prenatal screening efficiency of birth defects. Compared to the fetuses with increased NT combined with structural abnormalities, the healthy survival rate of fetuses with isolated increased NT based on detailed first-trimester anomaly scan is higher and the percentage of fetal aneuploidies is lower.

Objective: To observe the therapeutic effects of Archimedes sling system in the rehabilitation of knee joint flexion dysfunction of patients after deep burns. Methods: Thirty-seven patients with knee joint flexion dysfunction after deep burn, conforming to the study criteria and hospitalized in Burn Rehabilitation Center of Tongren Hospital of Wuhan University & Wuhan Third Hospital from March 2015 to December 2017, were recruited in this prospective controlled study. According to the order of admission, 18 odd-numbered patients and 19 even-numbered patients were enrolled in conventional treatment (CT) group [13 males and 5 females, aged (42±10) years] and sling treatment (ST) group [13 males and 6 females, aged (37±10) years] respectively. Patients in group CT were conventionally conducted with knee joint mobilization treatment, continuous passive motion treatment, and pressure therapy, while patients in group ST were conducted with supine knee joint flexion and extension training and micro-squat short arc resistance training with Archimedes sling system besides CT. Patients in the 2 groups were treated for 6 months, and 1 course of treatment was 1 month. Before treatment and after 6 months of treatment, the knee joint active motion range was measured and the difference value was calculated, the American Hospital for Special Surgery (HSS) knee joint score was used to assess the functional disorder of patients, and the self-function satisfaction of patients were evaluated with modified Likert Scale. Data were processed with independent sample t test, paired sample t test, and chi-square test. Results: (1) Before treatment, the difference value of knee joint active motion range of patients in group CT was (45±11)°, which was similar to (44±12)° in group ST ( t =-0.206, P >0.05). After 6 months of treatment, the difference value of knee joint active motion range of patients in group ST was (89±14)°, which was obviously higher than (75±12)° in group CT ( t =0.897, P <0.01). The difference values of knee joint active motion range of patients in groups CT and ST after 6 months of treatment were obviously higher than those before treatment ( t =-13.394, -29.459, P <0.01). (2) Before treatment, the HSS knee joint score of patients in group CT was (40±10) points, which was similar to (36±11) points in group ST ( t =0.816, P >0.05). After 6 months of treatment, the HSS knee joint score of patients in group ST was (68±13) points, which was obviously higher than (57±10) points in group CT ( t =0.162, P <0.01). The HSS knee joint score of patients in groups CT and ST after 6 months of treatment were obviously higher than those before treatment ( t =-12.410, -30.559, P <0.01). (3) Before treatment, the self-function satisfaction scores of patients in the two groups were similar ( t =0.140, P >0.05). After 6 months of treatment, the self-function satisfaction score of patients in group ST was obviously higher than that in group CT ( t =3.103, P <0.01). The self-function satisfaction scores of patients in groups CT and ST after 6 months of treatment were obviously higher than those before treatment ( t =-11.697, -29.029, P <0.01). Conclusions: The Archimedes sling system can effectively increase the difference value of knee joint active motion range, alleviate the degree of knee joint dysfunction, and enhance the self-function satisfaction of patients on the basis of conventional rehabilitation treatment for patients with knee joint flexion dysfunction after deep burns.

In May 2015, a child with absence of most of the five fingers with scar formation after healing of a left hand burn wound hospitalized in our burn ward. According to the free online design program for making artificial limbs using three-dimensional printing technology on the internet, a utility artificial hand, most of which made of plastic parts, was designed for the child and printed by a three-dimensional printer. The child was instructed to wear and use the utility artificial hand, including driving the finger part of the utility artificial hand to make a grasping action by flexing the wrist joint. On the first day of using the utility artificial hand, the time the right hand and the utility artificial hand took to finish the Nine-Hole Peg Test (NHPT) was 24 and 325 s, respectively. After training, the child could grab some light and rough objects. After 3 months of follow-up, the child could use the utility artificial hand to cooperate with the upper limb of the healthy side to make the movements of picking up the basketball and keeping the balance of body on the bicycle. The time the right hand and the utility artificial hand took to finish NHPT was 21 and 193 s, respectively. The time the utility artificial hand took increased by 40.6% compared with the initial period. By assembling the three-dimensionally printed utility artificial hand, the partial appearance image of the child was restored, and some of the hand functions were compensated, which improved the self-care ability of the child in daily life and was beneficial to his physical and mental development.

Objective: To observe the clinical effects of the Joint Active System on the treatment of joint dysfunction after deep burn. Methods: Twenty-two patients with joint dysfunction after deep burn were hospitalized in Institute of Burns of Tongren Hospital of Wuhan University & Wuhan Third Hospital from January 2015 to October 2016, involving 18 elbow joints with flexion disorder, 10 wrist joints with dorsal extension disorder, and 12 ankle joints with dorsal extension disorder. They were treated with the elbow joint activity training device, the wrist joint activity training device, and the ankle joint activity training device of the Joint Active System, respectively. The treatment was carried out 3 times each day with interval of 6 h, 30 minutes each time, and it lasted for four to seven months, with one month as a course of treatment. Before treatment and 1, 2, 3, 4 month (s) after, active motion range of each joint was measured by joint goniometer. Function improvement of each joint was evaluated, and the total effective ratio was calculated 4 months after treatment. Satisfaction degree of patients was assessed by the modified Likert Scale 1, 2, 3, 4 month (s) after treatment. Data were processed with one-way analysis of variance for repeated measurement and LSD test. Results: Before treatment and 1, 2, 3, 4 month (s) after, flexion active motion range of elbow joints were (61±23), (78±22), (89±20), (96±20), and (103±19)°; dorsal extension active motion range of wrist joints were (23±7), (31±6), (38±9), (44±5), and (49±8)°; dorsal extension active motion range of ankle joints were (-31±12), (-23±10), (-16±7), (-12±6), and (-8±4)°, respectively. The active motion range of each joint was obviously higher 1, 2, 3, 4 month (s) after treatment than the previous time point of the same joint (with P values below 0.01). Four months after treatment, the total effective ratios of function improvement of elbow joints, wrist joints, and ankle joints were 5/6, 9/10, and 2/3, respectively. Scores of satisfaction degree of the patients 1, 2, 3, 4 month (s) after treatment were (1.3±0.7), (2.2±1.0), (2.8±0.8), and (3.3±0.6) points, respectively. Scores of satisfaction degree of the patients were obviously higher 2, 3, 4 months after treatment than the previous time point (with P values below 0.05). Conclusions: Joint Active System can improve the active range of motion of each joint obviously in treating joint dysfunction after deep burn, with total effective ratio of function improvement of each joint surpassing 0.66, and the majority of patients are quite satisfied with the curative effects.

Objective: To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing., Methods: Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother., Results: Congenital cataract and enlarged posterior fossa were detected by fetal ultrasound screening. Fetal cranial MRI found hypoplasia of the gyrus. CMA revealed that the fetus has carried a 633 kb deletion at Xq25-26.1 which encompassed the OCRL gene. The mother was a carrier of the same deletion. Clinical examination after birth confirmed that the neonate was affected with Lowe syndrome in addition with an atrial septal defect., Conclusion: Prenatal diagnosis of Lowe syndrome without a family history largely depends on fetal imaging. Should cataract be found by ultrasound screening, fetal MRI may be considered to rule out central nervous system anomalies. CMA assay should also be considered to facilitate the diagnosis.

Objective: To explore the genetic cause for a fetus with structural anomaly, and to correlate the phenotype with the genotype., Methods: Amniotic fluid was obtained following the revelation of structural anomaly by ultrasonography. Cell culture and direct DNA extraction were performed in parallel. G-banded karyotyping analysis and chromosome microarray analysis (CMA) were subsequently carried out., Results: G-banded karyotyping has suggested the fetus to be a normal male. However, CMA analysis has revealed the presence of a mosaic 3.24 Mb duplication of 1p36.33p36.32 (24%) and uniparental disomy (UPD) of chromosome 6. The genetic diagnosis for the fetus was therefore 46,XY, arr 1p36.33 p36.32(849,466-4,090,472)×2-3, (6)×2 hmz. The anomaly can probably explain the ultrasound findings in the fetus., Conclusion: Compared with conventional cytogenetic methods, CMA has greater resolution and throughput, and can serve as a more efficient platform for the detection of chromosomal microdeletion, microduplication, loss of heterozygosity and UPD.

Objective: To investigate the clinical utility of multiplex ligation-dependent probe amplification (MLPA) for detecting 22q11 deletion and duplication in congenital heart disease (CHD) cases and to study the incidence of 22q11 deletion and duplicaton in different kinds of CHD., Methods: Forty eight probes of which 25 located in 22q11 low copy number region (LCR 22s A-H), 7 in 22q11 surrounding region (CES, 22q13) and 16 in chromosomes 4, 8, 10 and 17 were selected to detect 22q11 deletion and duplication in 181 preoperative children with CHD and 14 fetuses with serious CHD or CHD with multiple malformations. In these cases, karyotype analysis was also performed., Results: MLPA demonstrated that 7 cases had 22q11 deletion [6 cases from CLTCL1 to LZTR1(LCR A-D) and 1 case from CLTCL1 to PCQAP (LCR A-C)] and that 1 case had 22q11 duplication,spanning from ZNF74 to LZTR1(LCR B-D). The phenotypes of heart defect included ventricular septal defect, atrioventricular septal defect, pulmonary stenosis and tetralogy of Fallot. Karyotype analysis showed that 1 case had 21q deletion [46, XY, 21q], 1 case had mosaic trisomy 8 [47,XY, +8/46, XY(1:2)] and 4 cases had trisomy 21. One of the 4 cases with trisomy 21 had concurrent 22q11 duplication., Conclusions: MLPA is a rapid, sensitive, site specific and relatively inexpensive method for diagnosis of 22q11 deletion and duplication in CHD. 22q11 deletion and duplication may cause various kinds of CHD, suggesting that genetic detection should be performed routinely in CHD patients.

Objective: To investigate the application of "Guidelines for performing fetal cardiac scan", issued by the International Society of Ultrasound in Obstetrics and Gynecology in 2006, in prenatal screening of fetal congenital heart disease (CHD)., Method: Totally, 5000 singleton pregnancies presented at the Maternal-Fetal Medical Center of the Affiliated Drum Tower Hospital of Nanjing University Medical School from September 2006 to July 2007, for prenatal screening were included in this study, with the median maternal age of 28 (range, 18 approximately 48) and the median gestation of 27 (range, 18 approximately 40) weeks. Ultrasound screenings were performed on each fetal heart according to "Guidelines for performing fetal cardiac scan" via the four-chamber and outflow tracts & three-vessel views and fetal echocardiographies were further conducted for suspected cases. Once congenital heart disease was confirmed, amniocentesis or cordocentesis was suggested for fetal karyotyping for ongoing pregnancies and autopsy was performed when the pregnancy was terminated after formal consent. Born babies were followed up at 2 approximately 6 months of age using echocardiography., Result: The four-chamber views were successfully obtained in 97.64% (4882/5000) of all the pregnancies, among which the left ventricular and right ventricular outflow tracts and three-vessel views were obtained in 87.69% (4281/4882), 82.51% (4028/4882) and 96.29% (4701/4882), respectively. Higher successful rate was found in the second trimester than the third trimester in obtaining the standard views (P < 0.05). Finally, 73 (1.50%) among the 4882 cases were diagnosed as CHD. Fifty of them were diagnosed prenatally (24 cases in the second trimester and 26 cases in the third trimester) and 23 were missed and 1 misdiagnosed by prenatal ultrasound. Eighteen cases were found with extracardiac malformations. Autopsy was performed in 19 CHD which diagnosed prenatally, and all autopsy reports were consistent with ultrasound foundings. Twelve babies received postnatal echocardiography among which 11 were unanimous, and 1 baby diagnosed as tricuspid insufficiency prenatally was confirmed normal after birth. Abnormal karyotype was found in 7 out of the 23 who had karyotyping performed. Altogether, 28 cases were diagnosed by four chamber view only and 50 cases by combining other views, giving the sensitivity, specificity, false negative rate and false positive rate of 69% (50/73), 99.98% (4808/4809), 0.48% (23/4831) and 2% (1/51), respectively., Conclusion: The "Guidelines for performing fetal cardiac scan" is practical and easy to abide by. The optimal time for fetal cardiac examination is at 18 approximately 27 weeks of gestation. Four-chamber view together with the outflow tracts and three-vessel views examination can detect 69% of CHD in utero.

Objective: To explore the genetic prenatal diagnosis method for achondroplasia (ACH)., Methods: During May to November 2007, three ACH pedigrees were diagnosed at the Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital of Medical College, Nanjing University. In family 1, there was a 6-month-old male ACH infant. In family 2, the expectant mother, with 18 weeks of pregnancy, was an ACH patient. Amniocentesis was performed for prenatal diagnosis. The fetus of family 3 was diagnosed as ACH by ultrasound examination on the 39th week of gestation. Umbilical cord blood of this fetus was collected for examination. Totally, three methods, restriction enzyme (SfcI and MspI) digestion analysis, denaturing high performance liquid chromatography (DHPLC) and sequencing analysis were performed simultaneously to detect the pathogenic mutation of fibroblastic growth factor receptor 3 (FGFR3) for the three ACH families., Results: (1) The DHPLC detection: heteroduplex was detected in the patient of family 1; both the patient and the fetus of family 2 showed heteroduplex results; the result of the fetus of family 3 was also heteroduplex. (2) The enzyme digestion analysis for the PCR products of 10 exon of FGFR3: after SfcI digestion, the PCR products of patients and the fetus of family 1 and 2 showed not only the band of 247 bp, but also bands of 162 bp and 85 bp. But their PCR products could not be digested by MspI, and it only showed the band of 247 bp. For the fetus of family 3, the PCR products could not be digested by SfcI, while after digestion by MspI, bands of 162 bp and 85 bp were shown up. The PCR products of the normal control could be digested by neither SfcI nor MspI. (3) The sequencing results: the heterozygote mutation of 1138 G-->A was confirmed in the patient of family 1. The pregnant woman and her fetus in family 2 showed the same result. The heterozygote mutation of G-->C was confirmed in the fetus of family 3. The site of 1138 was G homozygote in the normal control. The three detection results of the fetus in family 2 were the same as that of the mother, which means that the fetus inherited the same pathogenic mutation from his or her mother., Conclusions: Both DHPLC and restriction enzyme digestion analysis could detect the mutation of FGFR3 gene, but DHPLC is more rapid, convenient and sensitive. So DHPLC can be applied to genetic diagnosis and prenatal diagnosis for ACH patients.

Objective: To study the applicability of MultiCalc software to prenatal screening of Down's syndrome in Jiangsu province, China., Methods: The gestational age-specific median of maternal serum marker was calculated by means of regression method. Regression functions for adjustment of Multiple of the Median (MoM) by weight were established for our own population., Results: Before the adjustment by weight, the average level of alpha fetal protein(AFP) was 16% higher and the free beta-human chorionic gonadotrophin (beta-hCG) was 14% higher than those of the Caucasian in MultiCalc software respectively. But when the AFP and free beta-hCG results were converted to weight-adjusted MoM levels, the values were 0.99 and 1.02 respectively. The median of MoM of AFP and the free beta-hCG were 1.00 through the regression model of gestational age and weight adjustment., Conclusion: There was no difference of average weight-adjusted MoM levels between the Jiangsu population and the Caucasian, and the MultiCalc software was applicable to maternal serum screening for Down's syndrome of Jiangsu.