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Background: Noninvasive prenatal testing (NIPT) is used to screen for fetal chromosomal abnormalities, such as fetal aneuploidy, and has been offered at our hospital since 2013. We analyzed data from our center to determine if NIPT screenees could be given more-accurate information on NIPT outcomes. Methods: This retrospective observational study included 819 pregnant women who requested NIPT at Nippon Medical School Hospital from November 2013 to October 2021. We examined medical records for data on NIPT results and clinical outcomes. Results: Of the 819 women, 764 (93.2%) underwent NIPT, and 55 (6.7%) did not. Of the 764 women who underwent NIPT, 17 received a positive result (2.2%), of whom 2 (11.8%), 4 (23.5%), and 11 (64.7%) received a positive result for trisomy 13, 18, and 21, respectively. The true-positive rates after definitive diagnoses of trisomy 13, 18, and 21 were 1 (50%), 3 (75%), and 11 (100%), respectively. Of the 17 positive results, there were two false-positive results (11.8%) (for trisomy 13 and trisomy 18). Eleven women with fetal aneuploidy terminated their pregnancies, and four cases resulted in intrauterine fetal death. Five neonates with negative NIPT results had congenital disease without chromosomal abnormality. Two patients had indeterminate results from the first blood sampling, possibly because of treatment with unfractionated heparin. The results of repeat testing after heparin cessation were negative. Conclusions: Our results were generally similar to nationwide data for Japan. NIPT providers can provide more detailed and individualized genetic counseling for each situation by understanding their own medical facility's data in detail. [ABSTRACT FROM AUTHOR]

Background: With the increasing rate of high-risk pregnancies, there is an increased need for early evaluation of at-risk fetuses. Fetal ultrasound imaging has become a pivotal part of this evaluation. Methods: To evaluate the role played by a fetal ultrasound clinic in promoting comprehensive perinatal care of patients with high-risk pregnancies, we retrospectively analyzed the indications and findings of fetal scans and the outcomes of the examined fetuses collected over the past 7 years (2014-2020) by our institute, which is reorganized as a perinatal medical center. Results: During the study period, we conducted 345 fetal scans in high-risk pregnancy cases. Of these, 158 cases (46%) were referrals from other institutes. Eighty-nine neonates were admitted to our neonatal intensive care unit (NICU) after being evaluated, of which 10 neonates underwent surgery during their NICU stays. Thirty-nine pregnant women were referred to other tertiary care hospitals mainly due to fetal diagnoses with complex cardiac anomalies. Fourteen cases resulted in intrauterine fetal death or artificial abortion. Conclusions: Fetal ultrasound clinics have established their role in facilitating sophisticated regional perinatal care via multidisciplinary and inter-facility cooperation for high-risk pregnancy cases. In addition, providing psychological support and counseling for pregnant women whose fetuses are diagnosed with severe congenital anomalies should not be neglected. [ABSTRACT FROM AUTHOR]

We describe a patient with complete chorioamniotic membrane separation (CMS). During embryologic development, the chorionic and amniotic membranes each arise from their own germ layers and form a celomic cavity in the first trimester of pregnancy. By the early second trimester, the cavity has shrunk and the membranes become conjugated. However, the membranes may separate spontaneously or because of an invasive intrauterine procedure. This pathologic condition is referred to as CMS. Extensive CMS can lead to miscarriage, fetal death, neonatal death, amniotic band syndrome, umbilical cord complications, and preterm delivery. In this case, CMS was detected in the 29th week of pregnancy with a routine ultrasonographic examination in the absence of a distinct non-reassuring fetal status or an abnormality of the intrauterine environment. The patient had undergone amniocentesis at 16 weeks of pregnancy for chromosomal analysis. Ultrasonography showed a floating membranous structure in almost every view of the intra-amniotic cavity. Thus, complete CMS was believed to have occurred. Therefore, precautionary checkups and examinations were periodically performed. Childbirth took place uneventfully by means of elective cesarean section in the 37th week of pregnancy. Because pathological examination showed complete CMS, the validity of the prenatal diagnosis was confirmed. [ABSTRACT FROM AUTHOR]

Objective: To evaluate clinical features of assisted reproductive technology (ART) patients with pregnancy-induced hypertension (PIH) compared to spontaneously conceived PIH patients. Methods: We retrospectively compared PIH incidence, maternal outcomes, and neonatal outcomes among these patients. Results: Preeclampsia, cesarean rate, and massive maternal bleeding were significantly more common in the ART group. Neonatal outcomes showed no significant difference between the groups. Multiple regression analysis revealed ART as an independent risk factor for preeclampsia. However, higher cesarean rate and massive bleeding were mainly associated with multiple pregnancy. Conclusion: ART patients with PIH had an increased incidence of preeclampsia, cesarean delivery, and massive maternal hemorrhage. [ABSTRACT FROM AUTHOR]

Peters' plus syndrome is a rare autosomal recessive condition characterized by a combination of typical ocular defects and other systemic abnormalities. We present a case of this uncommon syndrome that we diagnosed during a fetal ultrasonographical examination. Because the patient exhibited microcephaly and anterior staphyloma of the right eye and because impending rupture was feared, we performed ophthalmectomy during the neonatal period. Fetal ophthalmological anomalies are often detected during ultrasonographic examination targeting other systemic abnormalities, with positive family histories providing important diagnostic clues. This case is, to our knowledge, the first to be reported of prenatally diagnosed Peters' plus syndrome in a patient with no known family history in whom total blindness was prevented with an early referral to specialists. [ABSTRACT FROM AUTHOR]