Table 2

Ultrasonographic, clinical and autopsy findings in 12 cases of severe prenatal or perinatal SASD

Pt. no.	Age at death or MT (GA)	Consang./recurrence		Ultrasound examination			Age at birth (GA)		Examination at birth or at fetal autopsy
Pt. no.	Age at death or MT (GA)	Consang./recurrence		GA	Abnormalities		Age at birth (GA)		Ascites	Oedema	HM	Facial dysmorphy	Dysostosis
HM, hepatomegaly; MT, medical termination; IUFD, in utero fetal death; IUGR, intra-uterine growth retardation; SA, spontaneous abortion; GA, gestational age (weeks). No clinical data available since the age of 2 years; †no clinical data at birth; ‡Poulain et al²⁹; §Carbillon et al⁵; ¶Lefebvre et al*³⁰.
Neonatal forms
1	>2 years*		+/2 SA	35		Prefrontal oedema		35	– †	Prefrontal	+	+	+
						Transient ventriculomegaly			(at 1.5 months)
2	2 months		−/−	34		Short femur		34.5	+	Inferior limbs	+	+	+
3	5 months		−/−	16		Ascites, IUGR		28	++	Feet	+	+	+
4	1.5 months		−/−	34		Ascites, pericardic effusion, IUGR, oligoamnios		35	++	Socket and hand	+	+	+
Antenatal forms
5 ‡	28 GA		+/−	26.5		Ascites, HM, club feet, IUGR, oligoamnios			+	Testis	+	+	+
6	29 GA		−/−	20		Prefrontal oedema, peritoneal effusion, thick placenta			+	Cervical	+	+	+
				28		Prefrontal and retrocervical oedema, ascites, HM, ventriculomegaly
7§	26 GA		−/2 SA	19		Ascites, hydramnios, dysmorphy, short limbs, ventriculomegaly			+	? (Lysis)	? (lysis)	+	+
8	24 GA		?/−	20		Ascites, short femur			+	Hydrops	Not weighted (congestive)	+	–
				21		Hydrops, short femur, ventriculomegaly
9¶	19 GA		−/+	16		Ascites, hydrops, mild nuchal thickness			+	Hydrops	+	+	? (no x ray)
10	34 GA (IUFD)		+/−	28		Ascites, hydrops, mild HM			+	Hydrops	+	+	+
11	22 GA		−/−	10		Nuchal thickness			+	Hydrops	–	+	+
				18		Ascites, cephalic and truncal oedema, pleural effusion, club feet
12	30 GA (IUFD)		+/−	22		Ascites, pleural and pericardic effusion, subcutaneous oedema		No data available