Neurodevelopmental outcome at 2 years of corrected age in fetuses with increased nuchal translucency thickness and normal karyotype compared with matched controls.

OBJECTIVES: Increased nuchal translucency (NT) thickness is an antenatal marker of aneuploidy or malformation that can lead to termination of pregnancy. This study assessed the long-term neurodevelopmental prognosis of infants who had isolated increased NT in utero. METHODS: This was a prospective cohort study of infants with a NT thickness > 95th percentile in the first trimester, but with a normal karyotype and no major anomalies, and controls with normal NT matched for birth weight, Apgar score, place of birth, parity and gestational age at birth. At 2 years of corrected age, all infants underwent the psychometric Brunet-Lézine test to evaluate their developmental quotient (DQ), overall (global) and specifically for the areas of posture, language, coordination and sociability. RESULTS: A total of 203 chromosomally normal infants were included in the increased-NT group and 208 in the control group. The mean global DQ was significantly lower in the increased-NT group than in the control group (108.6 ± 9.7 vs 112.8 ± 8.3; P < 0.0001), but it was within the normal range expected for that age in both groups. Similarly, the mean DQs for coordination, sociability and language, but not for posture, were significantly lower in infants with increased NT than in controls. Only one case with increased NT had a DQ < 70 (defined as severe neurodevelopmental impairment), compared with none in the control group. The difference between the two groups remained significant for a NT threshold ≥ 99th percentile and when the data were adjusted for NT thickness, the infant's sex and the mother's educational level. In the increased-NT group, NT thickness was < 3.5 mm in over half (56%) of the infants, between 3.5 mm and 5 mm in 33% and > 5 mm in 11%, with a mean global DQ of 108.4, 110.1 and 109.7, respectively. CONCLUSIONS: Infants who had isolated increased fetal NT in the first trimester had a significantly lower, but normal, DQ at a corrected age of 2 years, when compared with controls. The findings were independent of the infant's sex, fetal NT thickness and the mother's educational level. © 2020 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.

OBJECTIVE: Campomelic dysplasia (CD) is a rare skeletal dysplasia characterized by marked femoral and tibial angulations, hypoplasic scapulae, normal upper limbs and sex reversal in 3/4 of 46,XY fetuses. Most cases are lethal in the neonatal period. Heterozygous mutations in the SOX9 gene are responsible for CD. The diagnosis is not usually made until the mid-second trimester or later. METHODS: We describe 2 cases of CD suspected by ultrasonography in the first trimester. RESULTS: The 2 cases presented with hygroma colli along with anomalies in the lower but not the upper limbs. Terminations of pregnancy were obtained at 14+3 and 20+6 gestational weeks. Fetopathological examinations confirmed sonographic findings. CONCLUSION: When first trimester hygroma colli is accompanied by specific findings of the lower limbs, the diagnosis of CD can be investigated through SOX9 mutation analysis.

[Utility of fetal ultrasonography in the prenatal diagnosis of Smith-Lemli-Opitz syndrome]. / Apport de l'échographie foetale dans le diagnostic prénatal du syndrome de Smith-Lemli-Opitz.

Smith-Lemli-Opitz syndrome is a rare autosomal recessive genetic disorder which diagnosis is usually made postnatally. We describe a case of a prenatal diagnosis based only on specific ultrasound findings: intra-uterine growth retardation with facial dysmorphia, polydactyly and genital anomalies. We suggest giving more consideration to the ultrasound scanning for the diagnosis of the syndrome in the prenatal period.

[Chart for estimation of fetal weight 2014 by the French College of Fetal Sonography (CFEF)]. / Courbe d'estimation de poids fœtal 2014 par le Collège français d'échographie fœtale (CFEF).

OBJECTIVE: To establish a reference chart for estimated fetal weight (EFW) using the Hadlock formula based on recent biometric data (2012-2013). MATERIAL AND METHODS: A prospective multicentric longitudinal study was carried out. Biometric parameters as the head circumference (HC), abdominal circumference (AC) and the femur length were measured in multiple areas of France from January 2012 until December 2013. EFW was calculated using the predictive formula of Hadlock using three parameters. The accurate gestational age was the main inclusion criteria calculated in weeks of gestation (WG). A polynomial regression approach was used to calculate the mean and standard deviation for every WG adjusted to raw data. Centiles of EFW were calculated from the z score that corresponds to the -1.88, -1.28, 0, +1.28, +1.88 respectively for the 3rd, 10th, 50th, 90th, et 97th percentile in order to establish a new chart of EFW. RESULTS: Measurements were obtained for 33,143 fetus between 17 et 38 WG. Reference charts with the 3rd, 10th, 50th, 90th et 97th percentiles were presented. CONCLUSION: The reference Chart 2014 is an in utero chart for EFW based on ultrasound measurements data reliable and homogenous from a sample of 33,143 fetus of a general population. It offers a tool to use in routine ultrasound examination for the survey of the fetal growth and to diagnose fetus that are small for gestational age or presenting a restriction in growth.

[Fetal transcerebellar diameter measured in screening ultrasound: Feasibility and reproducibility]. / Mesure du diamètre transverse du cervelet en échographie de dépistage : faisabilité et fiabilité.

OBJECTIVE: The aim of the study was to evaluate feasibility and reproducibility of fetal transcerebellar diameter measurement during second and third trimester ultrasound mass screening by junior and senior physicians. MATERIALS AND METHODS: A monocentric prospective study was conducted at the tertiary care teaching hospital in Lyon, including patients undergoing their second or third trimester planned ultrasound exam. For each patient, a resident and a senior practitioner measured each fetal transcerebellar diameter, during a blinded experiment, according to the transcerebellar plane described by the International Society of Ultrasound in Obstetrics and Gynecology. Images have been scored on 4 criteria. The inter-observer variability for transcerebellar diameter and image quality was assessed using an intra-class correlation coefficient. Image quality has been analyzed according to pregnancy term and to fetal presentation. RESULTS: Sixty-six patients were included, 44 patients before and 22 patients after 30 weeks. Inter-observer variability of transcerebellar diameter measurement was 0.4%. Inter-observer variability of image quality was 13.5%. Image quality was not significantly different between seniors and residents (P=0.06). Gestational age and fetal presentation did not affect significantly image quality (P=0.42) and (P=0.64) respectively. CONCLUSION: Transcerebellar diameter measurement during mass screening is simple and reliable. Posterior fossa abnormalities can be explored through its measurement.

[Aetiology and prognosis of prenatally diagnosed megacystis regarding gestational age at discovery. A six-year retrospective study]. / Étiologies et pronostic des mégavessies de diagnostic prénatal selon l'âge de découverte. Étude rétrospective sur six années.

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.