The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Egyptian Journal of Medical Human Genetics

Table 2 Prenatal anatomical data of the proband

Profile	Maternal age: 24 years	Fetal gender: Male	Type of pregnancy: Singletons
Details	Gestational age (weeks, days)
Details	22w, 3d ± 1w	27w, 3d ± 1w	34w, 2d ± 1w
Presentation	Cephalic	Cephalic	Cephalic
Placental location	Posterior-Grade 1	Posterior-Grade 1	Posterior-Grade 2
HC	245 mm	273 mm	324 mm
FHR	147 b/m	150 b/m	148 m
AFI	54 mm	57 mm
Fetal weight	558 mm gr + 1–60 gr	1132 mm gr + 1–60 gr	2507 gr + 1–60 gr
BPD	66 mm	74 mm	90 m
AC	176 mm	230 mm
FL	39 mm	52 mm	68 m
LVW	29 mm	29 mm	32 mm
Reports	Moderate Hydrocephaly	Moderate-to-Severe Hydrocephaly	Moderate-to-Severe Hydrocephaly

Abbreviations HC: Head circumference; FHR: Fetus Heart Rate; AFI: Amniotic Fluid Index; F. wt; AC: Abdominal Circumference; FL: Femur Length; LVW: Lateral Ventricular Width; and mm: millimeter