| | 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 |
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