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Objectives To describe a population choosing to continue with their pregnancy despite being eligible to receive a medical termination of pregnancy (TOP). Methods Nine-year retrospective study of data (01/01/2006 to 31/12/2014) from three French prenatal diagnostic centers describing the perinatal outcomes of these pregnancies. Pregnancies were classified according to etiology and severity of its fetal pathology. Several perinatal parameters were described: maternal characteristics, parental prenatal choices and information on the pregnancy and neonatal outcomes. These parameters were classified in function of the severity of fetal pathology according to the classification proposed by Dommergues et al. (Prenatal Diagnosis 30(6):531-539, 2010) Results Overall, 155 pregnancies were continued; 140 have been included in our study. Pregnancy outcomes consisted of four TOPs (2.9%); 20 in utero deaths (14.3%); 110 live births (78.6%) of which 55.4% were still alive at 2 years old as the most recent information; and 6 (4.2%) with unknown outcomes. In 27 cases, perinatal palliative care was requested (an increase of 37% over 9 years). 36.4% of cases were classified as having a high mortality risk; 19.3% with a severe handicap risk; 11.4% with a risk of isolated intellectual disability; and 32.9% with an uncertain prognosis. The parental decisions to choose perinatal palliative care were significantly higher within the high mortality risk group as compared to other severity groups (p < 0.001); this group also had a significantly higher mortality (p < 0.001), with a survival rate of 26.3%. Conclusion Over the study period, in France, there was an increase in continued pregnancies, despite a diagnosis of severe fetal pathology in France. Therefore, it is essential that perinatal professionals are provided with a palliative care framework and training in their approach for this population which is heterogeneous in terms of etiology. [ABSTRACT FROM AUTHOR]

Objective: To validate the modified Pregnancy-Unique Quantification of Emesis and Nausea (PUQE) score and the Health-Related Quality of Life for Nausea and Vomiting of Pregnancy (NVP-QOL) score in a French population.Methods: A retrospective study was conducted of data for women who delivered at a tertiary care hospital in La Roche sur Yon, France, between November 1, 2012, and April 1, 2013. Only women who reported nausea and vomiting of pregnancy (NVP) in the first trimester were invited to respond to the two questionnaires.Results: Overall, complete questionnaires were available from 399 women, 238 (59.6%) of whom reported NVP in the first trimester. The modified-PUQE score was associated with the self-reported symptom severity (P<0.001). A relationship was also noted when either the NVP-QOL score or the modified-PUQE score was compared with the symptom intensity (P<0.001 for both comparisons). Furthermore, a high NVP-QOL score was associated with a high modified-PUQE score (P<0.001).Conclusion: The modified-PUQE and NVP-QOL scores provided valid indices for assessing NVP severity and alterations in quality of life. Owing to its simplicity, the modified-PUQE score might be used routinely among women experiencing NVP in the first trimester of pregnancy. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this study was to describe diagnoses and outcomes when women choose to continue a pregnancy despite detection of severe fetal anomaly.Material and Methods: Retrospective study from a French national registry between 2005 and 2009. Various indication groups were classified based on a scale incorporating mortality and morbidity outcomes. Risk factors for perinatal mortality and predictors of neonatal survival were determined by multinomial logistic regression analyses.Results: The overall number of pregnancies that continued after diagnosis of a severe fetal anomaly was 2266 (6.6%). The diagnoses were categorized into life-limiting conditions (34.2%), serious disability anomaly (40.8%), potential intellectual disability (8.6%), other conditions (8.8%), and failure to classify (7.4%). During the study period, there was a significant increase in the number of women who continued pregnancy after their fetus was diagnosed with a life-limiting condition (p = 0.03), and a decrease when the fetus was diagnosed with potential intellectual disability (p = 0.01). Pregnancy outcomes were intrauterine fetal death (17.4%), neonatal mortality (22.3%), neonatal survival (52.7%), or unknown (7.5%). Multinomial logistic regression analysis suggested an increased likelihood of neonatal survival among fetuses diagnosed with serious disability anomaly [59.8%, relative risk (RR) 4.1, 95% CI 3.1-5.7], potential intellectual disability (74.4%, RR 11.5, 95% CI 6.2-21.2), and other conditions (80%, RR 12.6, 95% CI 5.7-27.9) compared with life-limiting conditions (30.1%).Conclusions: An increasing proportion of women chose to continue pregnancy after the fetus was diagnosed with a potentially life-limiting condition; survival of children with these diagnoses is not uncommon. [ABSTRACT FROM AUTHOR]

Summary: Objectives: To review clinical and epidemiologic data of orofacial clefts and to evaluate the efficacy and the impact of prenatal diagnosis. Material and methods: A population-based retrospective study was carried out on data from the Congenital Malformations of Alsace Registry (France) between 1995 and 2006. Results: A total of 321 orofacial clefts were recorded (overall prevalence, 2.1 per 1000), divided into cleft lip (CL) or cleft lip palate (CLP) (204 cases) and cleft palate (117 cases). The cleft lip and cleft lip palate CL±P sex-ratio was 1.87, whereas the CP sex-ratio was 1. CLs were more often unilateral than CLPs (79% versus 59%). CLs were unilateral in 79% of the cases (60/76), bilateral in 20% of the cases (15/76), and median in 1% (1/76); 55% of the unilateral CLs were right and 45% were left. CLPs were unilateral in 59% of the cases (76/128), bilateral in 39% of the cases (50/128), and median in 2% (2/128); 45% of the unilateral CLPs were right and 55% were left. The 117 CPs were divided into 50 clefts of the total palate (43%) and 67 clefts of the posterior palate (57%); 25 cases (21%) of Pierre Robin sequence were collected. Sixty-six percent of CL±P (134/204) were associated with other congenital anomalies, including chromosome abnormality in 31 cases and identified monogenic syndrome or association in 12 cases. The most frequent chromosome abnormalities were 16 cases of trisomy 13 and 7 cases of trisomy 18. No cases of 22q11.2 microdeletion or duplication were detected among CL±P. Monogenic syndromes were identified in 6% (12/204) of CL±P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case). Forty-two percent of CPs (49/117) were associated with other congenital anomalies; chromosome abnormality was identified in 12 cases and monogenic syndrome was diagnosed in 14 cases. The most frequent chromosome abnormality was 22q11 microdeletion (5 cases). Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). Fifty-two percent of CL cases (106/204) were prenatally diagnosed. An increasing tendency was observed between the 1995–2000 and 2001–2006 periods with a detection rate increasing from 47% to 56%. During the whole period, only 1 case of CP was prenatally diagnosed. Eighty-two percent of all cases (263/321) were livebirths; 8 stillbirths were reported (2%); 50 syndromic or associated cases (16%) led to medical abortion (no termination of pregnancy was performed for isolated cleft). Conclusion: Orofacial clefts are a frequent malformation with a total prevalence of 2.1 per 1000 total births. Sonbographic prenatal diagnosis of orofacial clefts remains difficult with a mean detection rate about 50% for CL±P and is extremely rare for CP. Associated malformations and genetic syndromes are frequent and require a systematic survey. This study also highlights the different pathogenic background of CL±P compared to CP, regarding the sex-ratio and the proportion and type of associated malformations. [Copyright &y& Elsevier]

Abstract: Objectives: The purpose of this study is to describe the diagnosis, the care and the prognosis of the fetuses with an antenataly diagnosed megacystis. Patients and methods: Six year retrospective study about 46 cases of megacystis (26 diagnosed during 1st trimester; 14 during 2nd trimester; 9 during 3rd trimester) referred in the prenatal fetal medicine unit of the Femme–Mère-Enfant hospital in Lyon (France). Results: The main aetiology is urethral occlusion, particularly for megacystis discovered during the 1st and the 2nd trimesters. Twenty-two terminations of pregnancy were performed (47.8%) and 6 pregnancies arrested spontaneously (13%). Eighteen children were born alive, but 2 died in neonatal period. Finally, 16 children survived (34.8%). Chromosomal abnormalities are frequent (22%). Discussion and conclusion: Antenatal discovery of a megacystis is a complex situation, and often of poor fetal prognosis. It requires a multidisciplinary approach to allow the concerned couple to be determined on the best care of this pregnancy. [ABSTRACT FROM AUTHOR]

Summary: Routine prenatal ultrasound screening for the detection of possible cardiopathy has existed in Upper Normandy since 1987, including the continuous training of obstetric ultrasonographers. We evaluated the profitability and the expected benefit of prenatal detection in a nonselected population in this region. Methods: A retrospective study was undertaken from October 2003 to September 2007 in the cardiopediatric units of Upper Normandy. All fetuses and infants with a diagnosed major cardiac defect were classified into 3 groups: no possibility of anatomic surgical repair (group 1), risk of early decompensation (group 2), and anatomic surgical repair possible but without early decompensation (group 3). Prenatal and postnatal mortality and morbidity were reported. Results: One hundred and sixty-five major congenital heart defects were detected prenatally and 68 postnatally. The prenatal detection rate was 71% (93, 53, and 77% for groups 1, 2, and 3, respectively; p <0.0001). The rate of pregnancy termination was 92, 17, and 45%, respectively. The mortality rate tended to be higher in the undiagnosed group of urgent neonatal heart cases (10.6% vs 4.4%). The prenatal prevalence of abnormal karyotype was 21% and was 11.5% for congenital malformation syndrome. Conclusion: Prenatal detection of major cardiac defects has continued to attain high success in Upper Normandy. However, 50% of urgent neonatal heart cases often remain undiagnosed, and therefore the neonatologist must treat this patient population with particular care. Prenatal diagnosis can reduce preoperative mortality and morbidity of cardiopathy with a risk of early decompensation with specific neonatal intensive care. [Copyright &y& Elsevier]

Background: Compared with standard karyotype, chromosomal microarray analysis improves the detection of genetic anomalies and is thus recommended in many prenatal indications. However, evidence is still lacking on the clinical utility of chromosomal microarray analysis in cases of isolated fetal growth restriction.Objective: This study aimed to estimate the proportion of copy number variants detected by chromosomal microarray analysis and the incremental yield of chromosomal microarray analysis compared with karyotype in the detection of genetic abnormalities in fetuses with isolated fetal growth restriction.Study Design: This retrospective study included all singleton fetuses diagnosed with fetal growth restriction and no structural ultrasound anomalies and referred to 13 French fetal medicine centers over 1 year in 2016. Fetal growth restriction was defined as an estimated fetal weight of Results: Of 682 referred fetuses diagnosed with isolated fetal growth restriction, both karyotype and chromosomal microarray analysis were performed in 146 fetuses. Overall, the detection rate of genetic anomalies found by chromosomal microarray analysis was estimated to be 7.5% (11 of 146 [95% confidence interval, 3.3-11.8]), including 10 copy number variants classified as pathogenic and 1 copy number variant classified as likely pathogenic. Among the 139 fetuses with normal karyotype, 5 were detected with pathogenic and likely pathogenic copy number variants, resulting in an incremental yield of 3.6% (95% confidence interval, 0.5-6.6) in chromosomal microarray analysis compared with karyotype. All fetuses detected with pathogenic or likely pathogenic copy number variants resulted in terminations of pregnancy. In addition, 3 fetuses with normal karyotype were detected with a variant of unknown significance (2.1%). Among the 7 fetuses with abnormal karyotype, chromosomal microarray analysis did not detect trisomy 18 mosaicism in all fetuses.Conclusion: Our study found that compared with karyotype, chromosomal microarray analysis improves the detection of genetic anomalies in fetuses diagnosed with isolated fetal growth restriction. These results support the use of chromosomal microarray analysis in addition to karyotype for isolated fetal growth restriction. [ABSTRACT FROM AUTHOR]

Objective: To compare the imaging procedures and surgical strategies used to treat placenta accreta at referral centers in France and Argentina.Method: A total of 52 women suspected of having placenta accreta underwent ultrasound and placental magnetic resonance imaging evaluations at these centers between May 2003 and October 2006. Findings and management were recorded.Results: The use of the 2 imaging technologies was similar in France and Argentina and conservative surgical treatment was predominant in both groups. The placenta was left in situ in 64.7% of cases at the French center whereas resection of the placenta and invaded area were performed in 91.4% of cases in Argentina.Conclusion: The same diagnostic tools were used in the 2 groups, but there were differences in diagnostic accuracy and in the types of surgical procedures performed. [ABSTRACT FROM AUTHOR]