Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Table 1

Clinical and cytogenetic findings in prenatal diagnosis of trisomy 10.

	Farrell et al. (1994) [2]	Schwärzler et al. (1999) [3]	Knoblauch et al. (1999) [4]	Brizot et al. (2001) [5]	Present case
Maternal age	32	32	36	18	31
Gender	F	M	M	M	M
Gestational age of diagnosis (weeks)	15	12	13	12	10
Increased nuchal translucency	+	4.7 mm		5.4 mm	2.7 mm
Hygroma colli			+
IUGR	+		+	+
Generalized oedema			+	+
Facial dysmorphism	+	+	+	+
Prominent forehead		+	+
Low set ears	+	+	+	+
Micrognathia/retrognathia	+	+	+	+
Cleft lip/palate	+	+	−	+
Limbs defects	+	+	+	+	+
Radial agenesis					Bilateral
Deformity of hands/fingers	Duplicated right thumb	Left hypoplastic clenched V finger		Hypoplastic 3rd finger	Bilateral hand ectrodactyly
Deformity of feet/toes	Right 2/3 syndactyly of toes Hypoplastic left toes	Bilateral talipes	Proximally placed left first toe	Syndactyly 2/3/4 right toes Agenesis left toes Rockerbottom feet
	Bilateral talipes Rockerbottom feet			Bilateral talipes
Cardiac malformations		Atresia of tricuspid valve Hypoplastic right ventricule; ASD	−	DORV; VSD
Renal agenesis	Right kidney	Right kidney	−	Left kidney	−
Other	Right lung agenesis	Diaphragmatic hernia	Liver agenesis	Microcephaly; Corpus callosum agenesis Hypoplastic penis Imperforate anus
	Intestinal malrotation
Cytogenetic analysis
Tissues/% trisomic cells	Amniocytes/100%; Fetal Skin/100%	CVS/100%	CVS/95%; Fetal skin/38%	CVS/100%; Fetal blood/100%	Amniocytes/80%
Outcome
Pregnancy termination	+	13 + 3 weeks	15 weeks		11 + 3 weeks; (fetal reduction)
Stillborn				35 + 4 weeks

(+) Present; (−) absent.
ASD: atrial septal defect; DORV: double outlet right ventricule; IUGR: intrauterine growth retardation; VSD: ventricular septal defect.