1999 4 PDF

Ultrasound Obstet Gynecol 1999;13:305–307
First-trimester determination of fetal gender by

ultrasound
Z. Efrat, O. O. Akinfenwa and K. H. Nicolaides
The Harris Birthright Research Centre for Fetal Medicine, King’s College Hospital Medical School, London, UK
Key words: ULTRASONOGRAPHY, FIRST TRIMESTER, FETAL GENDER, FETAL SEX, NUCHAL TRANSLUCENCY
ABSTRACT
Objective To assess the accuracy of fetal sex determina- male, or labial folds in the female. However, there is
tion at 11–14 weeks of gestation. no appreciable difference in the size of the penis and the
clitoris until after 14 weeks of gestation1. There is some
Methods Fetal gender assessment by ultrasound was
evidence that, in the early second trimester, fetal gender can
prospectively carried out in 172 singleton pregnancies at
be accurately predicted by assessment of the direction in
11–14 weeks of gestation immediately before chorionic
which the genital tubercle points (cranial for males and
villus sampling for karyotyping. The genital region was
caudal for females2) and also by the sagittal sign, whereby
examined in a midsagittal plane and the fetal gender was
examination of the genital region in the midline sagittal
assigned as male if the angle of the genital tubercle to a
plane demonstrates a caudal notch in females and a cranial
horizontal line through the lumbosacral skin surface was
notch in males3,4.
greater than 30° and female when the genital tubercle was
The aim of this study was to determine the accuracy of
parallel or convergent (less than 30°) to the horizontal line.
sex determination by ultrasound at 10–14 weeks, which is
Results The accuracy of sex determination increased with likely to be the gestation of the first routine anomaly scan
gestation from 70.3% at 11 weeks, to 98.7% at 12 weeks in pregnancy5,6.
and 100% at 13 weeks. In the male fetuses, there was a
significant increase in the angle of the genital tubercle from
the horizontal with crown–rump length. Male fetuses were
wrongly assigned as female in 56% of cases at 11 weeks,
MATERIALS AND METHODS
3% at 12 weeks and 0% at 13 weeks. In contrast, only 5% Fetal gender assessment by ultrasound was prospectively
of the female fetuses at 11 weeks were incorrectly assigned carried out in 172 singleton pregnancies at 11–14 weeks of
as male and this false-positive rate was 0% at 12 and 13 gestation immediately before chorionic villus sampling for
weeks. karyotyping. The patients were attending our unit for
assessment of risk for trisomy 21 because of a combination
Conclusion The clinical value of determination of fetal
of maternal age and increased fetal nuchal translucency
sex by ultrasound is in deciding whether to carry out pre-
thickness. The ultrasound examinations, which were
natal invasive testing in pregnancies at risk of sex-linked
carried out transabdominally using a curvilinear probe,
genetic abnormalities, because invasive testing would be
took 10–15 min to complete. The genital region was exam-
necessary only in pregnancies with male fetuses. Our
ined in a midsagittal plane with the fetus horizontal (paral-
results suggest that a final decision on invasive testing for
lel) to the probe in a supine position with no extension of
sex-linked conditions should be undertaken only after 12
the limbs or spine. A photograph was taken and the angle
weeks of gestation.
of the genital tubercle to a horizontal line through the
lumbosacral skin surface was measured (Figure 1). The
fetal gender was assigned as male if the angle was greater
INTRODUCTION than 30° and female if the phallus was parallel or conver-
Prenatal determination of fetal gender by ultrasound dur- gent (less than 30°) to the horizontal line. The fetal sex was
ing the second and third trimesters of pregnancy is based subsequently ascertained by the karyotype obtained from
on the demonstration of and the size of the penis in the the chorionic villus sample.
Correspondence: Professor K. H. Nicolaides, The Harris Birthright Research Centre For Fetal Medicine, King’s College Hospital Medical School,
London SE5 8RX, UK
O R I GI N A L PAP E R 305 Received 14–9–98

Revised 15–3–99
Accepted 1–4–99
98/209 AMA: First Proof 18 April, 19100
First-trimester determination of fetal gender Efrat, Akinfenwa and Nicolaides
a
b
Figure 1 (a) Male fetus with acute angle of the penis shown. (b) Female fetus with converging angle of the clitoris shown
120
Angle (degrees) of genital tubercle
Male
100 Female
Assigned incorrect gender
80
60
40
20
−20
40 50 60 70 80
CRL (mm)
Figure 2 Difference in angle of genitalia with gestational age, assessed by crown–rump length (CRL)
RESULTS Table 1 Gestational age distribution of the singleton pregnancies

that were examined by ultrasound for the determination of fetal
The median gestation at the time of assessment was 12 gender
weeks (range 11weeks–13 weeks + 6 days) and the median
Gender identified
crown–rump length was 62 mm (range 44–83 mm). Gestational
Successful examination of the genital region was achieved age (weeks) CRL (mm) n n %
in 157 (91.3%) of the 172 fetuses; in the other 15 cases, 11–11 + 6 43.4–55.3 40 37 92.5
examination was not possible, owing to the fetal lie or 12–12 + 6 55.4–67.9 83 77 92.8
maternal obesity (Table 1). Cytogenetic analysis demon- 13–13 + 6 68.0–83.9 49 43 87.8
strated a male karyotype in 83 cases and female karyotype Total 172 157 91.3
in 74 cases; there were four cases of trisomy 21, and one CRL, crown–rump length
case each of trisomy 18 and Klinefelter syndrome. The fetal
sex was correctly determined by ultrasound in 145 (92.3%)
12 weeks of gestation. In females, the angle of the clitoris
of the 157 cases. The accuracy of sex determination in-
ranged from −20 to +20° from the horizontal. In male
creased with gestation from 70.3% at 11 weeks, to 98.7%
fetuses from 12 weeks, the angle was more than 30° and
at 12 weeks and 100% at 13 weeks (Table 2). In the male
increased with advancing gestation. These findings are
fetuses, there was a significant increase in the angle of the
compatible with the embryological development of the
genital tubercle from the horizontal with crown–rump
external genitalia.
length (r = 0.797; p < 0.001) (Figure 2).
The structural precursors of the external genitalia are
present but are not sufficiently differentiated to make a
clear distinction on examination of the genitalia until after
DISCUSSION 10 weeks of gestation. However, from 12 weeks, there are
The findings of this study demonstrate that determination distinct changes in the structure of the urogenital sinus. A
of fetal sex by examination of the angle of the genital process of gender-specific changes takes place. In males, the
tubercle provided accurate prediction of the fetal sex from urogenital sinus is replaced by the scrotal and urethral
306 Ultrasound in Obstetrics and Gynecology
AMA: First Proof 18 April, 19100 98/209

First-trimester determination of fetal gender Efrat, Akinfenwa and Nicolaides
Table 2 Accuracy of sonographic determination of fetal gender in cytogenetic male and female fetuses between 11 and 14 weeks of
gestation
Gestational age Crown–rump Sonographically Sonographically
(weeks) length (mm) Cytogenetic male Cytogenetic female assigned as male assigned as female
11–11 + 6 43.4–55.3 18 19 8/18 (44.4%) 18/19 (94.7%)
12–12 + 6 55.4–67.9 35 42 34/35 (97.1%) 42/42 (100%)
13–13 + 6 68.0–83.9 30 13 30/30 (100%) 13/13 (100%)
Total 83 74
CRL, crown–rump length
raphe; closure of the urogenital sinus takes place in a ACKNOWLEDGEMENT

zip-like fashion starting from the caudal end of the embryo.
This study was supported by the Fetal Medicine Founda-
This process, combined with elongation of the genital
tion (charity no. 1037166).
tubercle, gradually displaces the phallus in a rostral direc-
tion. In the female the urogenital sinus remains open and
ultimately becomes the vestibule of the vagina7. Significant
differences in the rate of penile and clitoral growth become REFERENCES
evident in the second trimester; the majority of prenatal
1. Feldman KW, Smith DW. Fetal phallic growth and penile stand-
growth of the penis occurs after 14 weeks’ gestation at an ards for newborn male infants. J Pediatr 1975;86:395–8
almost linear rate1. 2. Bronshtein M, Rottem S, Yoffe N, Blumenfeld Z, Brandes JM.
The clinical value of determination of fetal sex by ultra- Early determination of fetal sex using transvaginal sonography:
sound is in deciding whether to carry out prenatal invasive technique and pitfalls. J Clin Ultrasound 1990;18:302–6
3. Emerson DS, Felker RE, Brown DL. The sagittal sign. An early
testing in pregnancies at risk of sex-linked genetic abnor-
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malities, because invasive testing would be necessary only sound Med 1989;8:293–7
in pregnancies with male fetuses. In our study, 56% of male 4. Natsuyama E. Sonographic determination of fetal sex from
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false-negative rate decreased to 3% at 12 weeks and 0% 748–57
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at 13 weeks. In contrast, only 5% of the female fetuses at
the 10–14-week scan. Ultrasound Obstet Gynecol 1997;10:
11 weeks were incorrectly assigned as male and this false- 429–42
positive rate was 0% at 12 and 13 weeks. Consequently, 6. Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH.
our results suggest that a final decision on invasive testing Defects and syndromes in chromosomally normal fetuses with
for sex-linked conditions should be undertaken only after increased nuchal translucency thickness at 10–14 weeks of ges-
tation. Ultrasound Obstet Gynecol 1998;11:391–400
12 weeks of gestation. A larger study would be required to
7. Marshall FF. Embryology of the lower genitourinary tract. Urol
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tion of this technique into routine practice.
Ultrasound in Obstetrics and Gynecology 307
98/209 AMA: First Proof 18 April, 19100

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Ultrasound Obstet Gynecol 1999;13:305–307

First-trimester determination of fetal gender by

O R I GI N A L PAP E R 305 Received 14–9–98

RESULTS Table 1 Gestational age distribution of the singleton pregnancies

306 Ultrasound in Obstetrics and Gynecology

AMA: First Proof 18 April, 19100 98/209

raphe; closure of the urogenital sinus takes place in a ACKNOWLEDGEMENT

Ultrasound in Obstetrics and Gynecology 307

98/209 AMA: First Proof 18 April, 19100

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