Sonographic markers for early diagnosis of fetal malformations

Table 1 Sensitivity of sonographic markers of aneuploidies

Markers of aneuploidy	DR (%)	FPR (%)
NT	83
NT+ PAPP-A + β-hCG + AFP + estriol	94	5
Femoral length	40-50	7
Humeral length	50-54	5-6
Humeral length + NT	75
Pyelectasis	17-25	2-3
Hyperechoic bowel	3.3-27	1
Absence of nasal bone	73	0.5
Nasal bone + NT + PAPP-A + β-hCG + AFP + estriol+ maternal age	97
Aberrant right subclavian artery	37.5	1.4

DR: Detection rate; FPR: False-positive rate; NT: Nuchal translucency; PAPP-A: Pregnancy-associated plasma protein; β-hCG: Chorionic gonadotropin; AFP: Alpha-fetoprotein.

Table 2 Classes of fetal cardiac anomalies

Complex CHD	Moderate CHD	Simple CHD
Transposition of the great arteries	Mild or moderate AS or aortic incompetence	Small VSD
Tetralogy of Fallot, Hypoplastic right heart	Moderate PS or incompetence	Small PDA
SV, DORV, Truncus arteriosus	Noncritical Coarc	Mild PS
Total anomalous pulmonary venous connection	Large ASD	BAV without AS or aortic incompetence
AVSD, Large VSD, Large PDA Critical or sever PS, Critical or severe AS, Critical Coarc	Complex forms of VSD	Small or spontaneously closed ASD

CHD: Congenital heart disease; AS: Aortic stenosis; VSD: Ventricular septal defect; PS: Pulmonary stenosis; PDA: Patent ductus arteriosus; SV: Single ventricle; DORV: Double outlet right ventricle; ASD: Atrial septal defect; BAV: Bicuspid aortic valves; AVSD: Atrioventricular septal defect.

Table 3 Comparison between two-dimensional ultrasound and three-dimensional ultrasound detection power of skeletal dysplasia markers

Markers of skeletal dysplasia	Power of detection
	2D-US	3D-US
Shortening of long bones	+++	+++
Increased thickness of femoral metaphysis	-	+++
Bone fracture	++	+++
Bowing of long bones	++	+++
Decreased mineralization	-	++
Phalangeal hypoplasia	+	+++
Point-calcified epiphysis	+	++
Macrocephaly	++	+
Frontal bossing	++	+++
Facial dysmorphism	+	+++
Narrow thorax	+++	+++
Increased intervertebral space	++	++
Deformation of the fetal pelvis	+	++

+++: Height; ++: Medium; +: Low; -: Very low.