Table 3.

Publications on the incidental prenatal diagnosis versus postnatal diagnosis of SCA in period 1980–2011. Case-control studies, clinical comparison, and outcome data.

Author, year	Prenatal incidental diagnosis SCA outcome of domains	Postnatal diagnosis SCA outcome of domains	Type SCA
(1) Wheeler et al., 1988 [15]	6 pregnancies, 3 term, 1 premature delivered infants, 1 termination, 1 intrauterine death: 4 healthy children, 2 fetuses normal on autopsy Domain I: 100% normal Domain II: 100% no mental retardation Domain III: 100% Normal reproductive fertility and normal genitalia	9 children with abnormal intern/extern genitalia, 7 children with ambiguous genitalia at birth, 2 children with primary amenorrhea at age 17 Domain I: 22% short stature, webbed neck Domain II: 100% no mental retardation Domain III: 88%: ambiguous genitalia, changed sexual assignment, rudimentary phallus, urogenital sinus, hypospadias, undescended testes; 22%: primary amenorrhea	45,X/46,XY mosaicism
(2) Pettenati et al., 1991 [16]	3 prenatally detected cases; clinical comparison with the postnatally detected cases Domain I: Two phenotypically normal term born infants, 1 posttermination normal male fetus on autopsy Domain II: Normal Domain III: Normal external male genitalia in both children; fetus with normal position of testes, normal penis, and scrotal development	4 postnatally detected cases, clinical comparison with the prenatally detected cases Domain I: All had phenotypic abnormalities: short statue, short limbs, cubitus valgus, nevi, epicanthical folds, depressed nasal bridge, micrognathia, low hair implantation, webbed neck, shield chest, posteriorly rotated ears Domain II: One child developmental delay Domain III: All children had genital abnormalities: ambiguous genitalia, mixed gonadal dysgenesis, streak gonads, hypospadias, small penile length	45,X/47,XYY mosaicism
(3) Hsu, 1994 [17]	Phenotype of 93 prenatally diagnosed cases, liveborn and abortuses Domain I: Not discussed Domain II: Not discussed Domain III: 67–97% normal gonads or genitalia	phenotype of 503 postnatally diagnosed cases Domain I: 0–25% phenotypically abnormal stature Domain II: Not discussed Domain III: 66–100% abnormal gonads or genitalia	Y chromosome aneuploidy (except nonmosaic 47,XYY)
(4) Koeberl et al., 1995 [18]	12 prenatally diagnosed cases Domain I: All (100%): normal growth, 3 (25%) health problems: ASD, ptosis, dysplastic kidneys Domain II: 8% mental retardation Domain III: 10 (83%): normal; 2 (17%): labial fusion, urogenital sinus	41 postnatally diagnosed patients Domain I: 22–53% malformations or phenotypic problems (edema, cardiac, renal otologic, gastrointestinal) Domain II: 8% developmental delay Domain III: 72% no spontaneous menarche	45,X/46,XX mosaicism
(5) Gunther et al., 2004 [19]	16 incidentally diagnosed cases Domain I: 31% heart defects, 25% renal anomalies, length/height deficit (−1.1 SDS), weight deficit (−1.0 SDS) Domains II and III: Not discussed	72 traditionally postnatal diagnosed cases Domain I: 64% heart defects,19% renal anomalies, length/height deficit (−1.7 SDS), weight deficit (−1.7 SDS) Domains II and III: Not discussed	45,X
(6) Zeger et al., 2008 [20]	35 prenatally diagnosed boys Domain I: Tall stature, hypotonia, increased BMI Domain II: Speech and reading therapy Domain III: Below average size penis and testes, low testosterone level, low inhibin B and AMH levels, elevated FSH and LH levels	20 postnatally diagnosed boys Domain I: tall stature, hypotonia, increased BMI Domain II: Speech and reading therapy Domain III: Below average size penis and testes, low testosterone level, low inhibin B and AMH levels, elevated FSH and LH levels no significant differences with prenatal group	47,XXY
(7) Girardin et al., 2009 [21]	11 prenatally diagnosed patients Domain I: Gynaecomastia 33%, BMI, height: normal Domain II: School delay 40% Domain III: All had spontaneous puberty, testosterone substitution 36%	17 postnatally diagnosed patients Domain I: Gynaecomastia 77%, BMI, height: normal Domain II: School delay 56% Domain III: All had spontaneous puberty, testosterone substitution 47%	47,XXY