BACKGROUND: Birth defects affect 1 in 33 infants in the United States and are a leading cause of infant mortality. Birth defects surveillance is crucial for informing public health action. The Massachusetts Birth Defects Monitoring Program (MBDMP) began collecting other pregnancy losses (OPLs) in 2011, including miscarriages (<20 weeks gestation) or elective terminations (any gestational age), in addition to live births and stillbirths (≥20 weeks gestation). We describe programmatic changes for adding OPLs and their impact on prevalence estimates.
METHODS: Using population-based, statewide, data from the MBDMP (2012-2020), we assessed prevalence per 10,000 live births and 95% confidence intervals (CIs) with and without OPLs overall and for specific birth defects by time period, maternal age, and race/ethnicity.
RESULTS: Including OPLs required amending a state statute and promulgating regulations, new data sources, and additional data processing, cleaning, and verification. Overall prevalence with OPLs increased from 257.4 (95% CI: 253.5-261.4) to 333.9 (95% CI: 329.4-338.4) per 10,000; increases were observed in all time periods, age, and race/ethnicity groups. After including OPLs, the prevalence increased for neural tube defects [3.2 (2.7-3.6) to 8.3 (7.6-9.0)], and trisomies 13 [0.5 (0.3-0.7) to 4.1 (3.6-4.6)], 18 [1.5 (1.2-1.9) to 8.2 (7.5-8.9)], and 21 [12.3 (11.4-13.2) to 28.9 (27.6-30.2)]. Cardiovascular defects increased slightly, while prevalence of eye/ear, respiratory, and gastrointestinal defects remained similar.
CONCLUSIONS: Adding OPLs required substantial programmatic efforts and resulted in more complete case ascertainment, particularly for certain birth defects. More complete case ascertainment will allow for improved research, screening, and resource allocation.

This study aimed to document the complication status of infants with orofacial clefts born between 2011 and 2014 in Japan. This was a descriptive study using data from the Japan Environment and Children\'s Study. Among 103 060 pregnancies, 248 infants with orofacial clefts were included (livebirth, 239; stillbirth, 4; miscarriage, 5). The items of interest were complication status of orofacial clefts: isolated (typical orofacial clefts only); multi-malformed (orofacial clefts with unrelated major defects); syndromic (orofacial clefts with a syndrome or a chromosomal defect). Regarding the cleft subtypes, of 248 infants with orofacial clefts, 104 had cleft lip with cleft palate (CLP) (41.9%), 68 had cleft lip without cleft palate (CL) (27.4%), 58 had cleft palate without cleft lip (CP) (23.4%), and 18 were nonclassified (7.3%). In infants with CLP, the proportions of isolated, multi-malformed, and syndromic phenotypes were 73.1%, 15.4%, and 11.5%, respectively. In infants with CL, the proportions were 79.4%, 16.2%, and 4.4%, respectively. In infants with CP, the proportions were 69.0%, 13.8%, and 17.2%, respectively. The most frequently associated congenital anomaly was congenital heart disease. In infants with syndromic CLP, 41.7% had trisomy 13. In infants with syndromic CP, 80.0% had the Pierre Robin sequence. Congenital heart disease could be the most frequently associated congenital anomaly. The most frequently associated syndrome could be trisomy 13 in those with CLP and Pierre Robin sequence in those with CP.

To assess non-visualization of the choroid plexus of the fourth ventricle (CP-4V) as a simple, qualitative and reproducible first-trimester ultrasound feature of the posterior fossa for the prediction of central nervous system (CNS) anomalies and chromosomal defects.
First-trimester three-dimensional ultrasound datasets of the fetal brain were obtained prospectively from 65 consecutive normal singletons and retrospectively from 27 fetuses identified as having an abnormal posterior fossa on first-trimester ultrasound examination, and randomly combined to form the final study group. The stored ultrasound volumes were analyzed offline by two accredited sonologists, who were not aware of the final diagnoses. The CP-4V was assessed by multiplanar navigation and classified as visible or non-visible in its normal position depending on whether or not the echogenic structure that separates the fourth ventricle from the cisterna magna was identified in both midsagittal and axial planes. Correlation with subsequent second-trimester ultrasound, fetal magnetic resonance imaging, or postmortem or postnatal findings was performed to determine the predictive value of the first-trimester findings.
Among the 92 ultrasound datasets analyzed, 73 (79%) were acquired transabdominally and 19 (21%) transvaginally. The CP-4V was classified as visible in 64 cases and non-visible in 28 cases, with agreement between the two observers in both sagittal and axial planes in all but one case. Twelve of the 28 (43%) fetuses with non-visible CP-4V were subsequently diagnosed as having a CNS malformation (open spina bifida (n = 6), Dandy-Walker malformation (n = 2), Blake\'s pouch cyst (n = 2), cephalocele (n = 1) and megacisterna magna (n = 1)). In addition, 20 of these 28 (71%) fetuses had aneuploidy (trisomy 18 (n = 10), triploidy (n = 5), trisomy 13 (n = 3), Turner syndrome (n = 1) or trisomy 21 (n = 1)). There was only one false-positive case, in which the CP-4V was classified as absent in a normal fetus.
Non-visualization of the CP-4V in the first trimester appears to be a strong marker of posterior fossa anomalies and chromosomal defects. Qualitative evaluation of this anatomic structure is simple, feasible and reproducible, and its routine assessment during the first-trimester scan may facilitate the early detection of CNS anomalies and associated fetal aneuploidy. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

OBJECTIVE: To document outcome following prenatal diagnosis of ventricular septal defects (VSDs), particularly associated anomalies and the requirement for surgical closure of the defect.
METHODS: All cases of prenatal diagnosis of a VSD made by fetal cardiologists at a tertiary fetal medicine referral center in the period January 2002 to December 2011 were extracted from our database. Data regarding fetal cardiac diagnosis, extracardiac anomalies, nuchal translucency thickness and karyotype were noted.
RESULTS: A total of 171 cases fulfilled our selection criteria. Of these, 69% were diagnosed with a perimembranous VSD and 31% with a muscular defect. The median gestational age at diagnosis was 21 + 6 (range, 12 + 0 to 37 + 3) weeks. Owing to severe extracardiac or genetic conditions, pregnancy resulted in intrauterine death or termination in 49% cases, and postnatal death occurred in 9% of cases. Seventy-two babies were liveborn, and were regarded as potential surgical candidates if hemodynamics suggested that surgery was indicated. Surgical closure of the VSD proved necessary in 50% of the patients with a perimembranous VSD and 13% of those with a muscular VSD. All patients operated on survived surgical repair. No karyotypic abnormalities were identified in fetuses with VSDs that had normal first-trimester screening and no other sonographic abnormalities.
CONCLUSIONS: A high proportion of VSDs diagnosed during fetal life (29%) require postnatal surgical intervention. The assessment of hemodynamic significance from fetal echocardiography is imperfect. The presence of extracardiac abnormalities or abnormal results on first-trimester screening has a major impact on the incidence of karyotypic abnormalities in affected fetuses. This should inform discussions with parents about invasive testing.

Mental retardation affects about 2-3% of the population and is often associated with comorbidities. So far, more than 450 different medical conditions are known with mental retardation as a sign and it is assumed that there are many more yet to be defined. The diagnosis of the underlying entity allows for a few specific optimization of cognitive function, but usually improves the treatment of comorbidities. Furthermore, the detection of the underlying genetic defect allows the specification of the risk of recurrence and enables prenatal diagnosis for future pregnancies of persons at risk in the family. Recent findings suggest that especially in diseases that are associated with defective synaptic signal transduction may be targeted by specific drugs for improvement of cognitive performance in the near future.
Mentale Retardierung betrifft ca. 2–3% der Bevölkerung und ist häufig mit Komorbiditäten assoziiert. Bislang sind mehr als 450 verschiedene Krankheitsbilder bekannt, die mit mentaler Retardierung einhergehen können und es werden noch viele weitere, noch unbekannte Entitäten vermutet. Die Diagnosestellung der zugrundeliegenden Entität ermöglicht derzeit noch für wenige eine gezielte Optimierung der kognitiven Funktion, verbessert jedoch in der Regel die Behandlung der Komorbiditäten. Ferner erlaubt der Nachweis des zugrundeliegenden genetischen Defektes die Präzisierung des Wiederholungsrisikos und ermöglicht eine vorgeburtliche Diagnostik für künftige Schwangerschaften von Risikopersonen in der Familie. Erkenntnisse der jüngsten Zeit deuten darauf hin, dass insbesondere bei den Erkrankungen, die mit einer fehlerhaften synaptischen Signalübertragung einhergehen, in naher Zukunft Medikamente zur gezielten Verbesserung der kognitiven Leistungsfähigkeit zur Verfügung stehen werden.
La déficience intellectuelle touche environ 2–3% de la population et est souvent associée à des comorbidités. Jusqu\'à présent, plus de 450 maladies sont connues pour être associées à un retard mental et on suspecte encore de nombreuses autres entités jusqu\'alors inconnues. Le diagnostic de l\'entité sous-jacente permet rarement aujourd\'hui d\'optimiser spécifiquement les fonctions cognitives, mais permet d\'améliorer le traitement des comorbidités. En outre, la détection de l\'anomalie génétique sous-jacente permet de connaître le risque de récidive et de réaliser un diagnostic prénatal pour les futures grossesses des personnes à risque dans la famille. Des résultats récents suggèrent que dans un futur proche des thérapies ciblées permettront d\'améliorer les performances cognitives chez les patients dont la maladie est associée à un défaut de transmission synaptique.

OBJECTIVE: To examine the feasibility and accuracy of fetal nasal bone (NB) assessment in the retronasal triangle (RNT) view for aneuploidy screening in the first trimester of pregnancy.
METHODS: Consecutive women with singleton pregnancies undergoing sonographic screening at 11-13 weeks\' gestation were prospectively evaluated. In all cases, assessment of the NB by using the RNT view was attempted and classified as present (if one or both of the NBs were clearly seen) or absent/hypoplastic (if the NB was not visualized or if it was small and less echogenic than the surrounding bones). The detection rate of fetal karyotypic abnormalities by the assessment of the NB in the RNT view was calculated.
RESULTS: In total, 1977 women were scanned. The RNT was successfully examined in 1970 fetuses (99.6%). Fetal outcome was available in 1767 (89.7%) of evaluated cases, and of these, 39 (2.2%) cases of aneuploidy were documented (trisomy 21, n=17; trisomy 18, n=8; trisomy 13, n=5; Turner syndrome, n=5; and triploidy, n=4). The prevalence of absent/hypoplastic NB was 12/1728 (0.7%) in chromosomally normal fetuses and 12/17 (70.6%) in trisomy 21 fetuses. Sensitivity, specificity and positive and negative predictive values of absent/hypoplastic NB for trisomy 21 were 70.6%, 99.3%, 50.0% and 99.7%, respectively. The positive and negative likelihood ratios of NB assessment were 101 (95% CI, 53-193) and 0.3 (95% CI, 0.14-0.62), respectively.
CONCLUSIONS: The RNT view is a useful technique for assessing the NB during the first trimester of pregnancy. With this new approach, performance of absent/hypoplastic NB as a marker of aneuploidy, mainly trisomy 21, appears to be similar to that previously reported by using the mid-sagittal plane.