Case Report

Prenatal Sonographic
Findings Associated With
Nonmosaic Trisomy 9 and
Literature Review
Lami Yeo, MD, Regina Waldron, DMS, Susan Lashley, MD,
Debra Day-Salvatore, MD, PhD, Anthony M. Vintzileos, MD

T
risomy 9 was first reported in 1973 through blood lymphocyte testing in a
newborn male with multiple congenital anomalies.1 Since that time, only
approximately 30 cases of mosaic or nonmosaic trisomy 9 have been report-
ed2; therefore, this is a relatively rare chromosomal abnormality, constitut-
ing only 2.7% of all trisomic cases.3 Nonmosaic or complete trisomy 9 is a lethal
diagnosis, with most fetuses dying prenatally or during the early postnatal period.
Those who survive usually have mosaic trisomy 9 and have severe motor and mental
deficiencies. With mosaic trisomy 9, the prevalence and severity of malformations and
mental deficiency correlate with the percentages of trisomic cells in different tissues.4
Because most complete trisomy 9 cases end in spontaneous abortion in the first
trimester, there is a paucity of reports regarding the prenatal sonographic findings of
complete trisomy 9. To our knowledge, only 7 cases of nonmosaic trisomy 9 that were
specifically detected on prenatal sonography have been reported in the literature: first
trimester (n = 2), second trimester (n = 2), and third trimester (n = 3).3,5–9 There are dis-
tinct features associated with complete trisomy 9. Clinical and sonographic findings
that have been described include intrauterine growth restriction, central nervous sys-
tem abnormalities, cranial and facial anomalies, skeletal defects, congenital heart
defects, and urogenital abnormalities.6,8
The purpose of this report is to describe the prenatal sonographic findings in a sec-
ond-trimester fetus with trisomy 9 and also to review the sonographic findings of all
published cases of nonmosaic trisomy 9 that were specifically detected on sonography.

Received October 15, 2002, from the Division of

Maternal-Fetal Medicine, Department of Obstetrics, Case Report
Gynecology, and Reproductive Sciences, University
of Medicine and Dentistry of New Jersey–Robert
Wood Johnson Medical School (L.Y., R.W., S.L.,
The patient was a 32-year-old Hispanic gravida 4, para 3
A.M.V.), and Institute for Genetic Medicine, St woman referred for routine sonography at 19.3 weeks’
Peter’s University Hospital (D.D.-S.), New Brunswick, menstrual age. The pregnancy was dated by a first-
New Jersey USA. Revision requested November 20,
2002. Revised manuscript accepted for publication
trimester scan. She had no notable obstetric history. The
December 18, 2002. patient had been offered midtrimester serum screening
Address correspondence and reprint requests to but declined.
Lami Yeo, MD, Department of Obstetrics, Gyne-
cology, and Reproductive Sciences, Division of
Sonography showed a fetus with growth restriction
Maternal-Fetal Medicine, University of Medicine measuring 17.5 weeks overall, with the following mea-
and Dentistry of New Jersey–Robert Wood Johnson surements: biparietal diameter, 19.2 weeks; head circum-
Medical School, St Peter’s University Hospital, 254
Easton Ave, Medical Office Building, Fourth Floor,
ference, 17.4 weeks; abdominal circumference, 17.3
New Brunswick, NJ 08903-0591 USA. weeks; and shortened long bones ranging between 16

© 2003 by the American Institute of Ultrasound in Medicine • J Ultrasound Med 22:425–430, 2003 • 0278-4297/03/$3.50
Sonographic Findings in Nonmosaic Trisomy 9
Figure 1. Sagittal scan of the fetal profile (trisomy 9) showing a sloping forehead,
flat profile, small nose, and micrognathia.
and 17 weeks. The following sonographic fea-
tures were observed: abnormal head shape
(broad occipital area and narrowing of the pari-
etal areas); ventriculomegaly and dangling
choroid plexus; short ear length (14.3 weeks) and
low-set, misshapened ears, an abnormal facial
profile (sloping forehead, flat profile, small nose,
and micrognathia; Fig. 1); a large stomach; a vas-
cular cystic area located to the left of the abdom-
inal cord insertion site; a straight (versus curved)
intrahepatic portal vein; camptodactyly with
angulated fingers (Fig. 2); a suspected cardiac
Figure 2. Coronal sonogram of the fetal hand (trisomy 9) showing camptodacty-
ly with angulated fingers.
426
anomaly; and small (15.5 weeks) rocker-bottom
feet with dorsiflexion at the ankles. The placenta
was located posteriorly, and the amniotic fluid
volume was within normal limits. The patient
was counseled that aneuploidy was highly sus-
pected and was offered genetic amniocentesis.
She proceeded with fetal karyotype testing, and
the results showed 47,XY, +9 (complete trisomy
9) in all 20 metaphase cells examined.
Subsequently, she returned for fetal echocar-
diography at 22.4 weeks’ menstrual age. In addi-
tion to the previously identified abnormalities,
this study showed an enlarged heart (occupying
≈40% of the chest), an atrial septal defect with a
single atrium, aortic stenosis, and possible
deep-set eyes. Examination for nares was diffi-
cult because of the small size of the nose. A
micropenis was also visualized. The patient gave
birth several days later after an induction due to
intrauterine fetal death, and gross examination
of the neonate confirmed low-set, malformed,
small ears (they were also posteriorly rotated),
abnormal facies (Fig. 3), camptodactyly with
angulated fingers (Fig. 4), rocker-bottom feet
with dorsiflexed ankles, and a micropenis, all of
which were shown sonographically. Webbing of
the neck and widely spaced nipples were also
seen. In particular, the facies showed hyper-
telorism, microphthalmia, a long philtrum, an
upper lip covering a receding lower lip, micro-
gnathia, a broad, flattened nose with a small tip,
Figure 3. Gross image of the face with trisomy 9 showing
abnormal, low-set ears, an upper lip covering a receding lower
lip, micrognathia, a broad, flattened nose with a small tip, and
up-slanting, short palpebral fissures.
J Ultrasound Med 22:425–430, 2003

and up-slanting, short palpebral fissures. The
patient declined autopsy of the neonate, and
birth weight was not available.
Discussion
To our knowledge, only 7 cases of nonmosaic tri-
somy 9 that were detected specifically on prena-
tal sonography have been reported in the
literature (Table 1).3,5–9 Of these cases, 1 patient
interrupted the pregnancy, 1 had a spontaneous
abortion, 4 had intrauterine fetal death, and 1
had neonatal death on postnatal day 24. The
prognosis for complete trisomy 9 is very poor.
Embryos with trisomy 9 usually have sponta-
neous abortion in the first trimester, and accord-
ingly, it is rare for survival to occur to a viable
gestational age. Most of these cases have low
birth weight, severe perinatal asphyxia, failure to
thrive, and profound growth and mental retarda-
tion.5 Neonates will usually die in the immediate
neonatal period, and there is no long-term sur-
vival when complete trisomy 9 exists. McDuffie6
found that of surviving live-born infants, only
25% (3 of 12) lived beyond 1 week.
The clinical phenotype of trisomy 9 includes
low birth weight, developmental delay, and
abnormalities of the central nervous, craniofa-
cial, cardiovascular, skeletal, and genitourinary
systems (Table 2).6,8 In addition, abnormalities
of these systems have also been reported on pre-
natal sonography. To our knowledge, only 2
Figure 4. Gross image of the hand with trisomy 9 confirming
the sonographic findings of camptodactyly with angulated fin-
gers. Note that the fingers are deviated laterally.
J Ultrasound Med 22:425–430, 2003
Yeo et al
cases detected on first-trimester sonography
have been reported.7,9 Both had nuchal anoma-
lies (cystic hygroma and increased nuchal
translucency). One of these cases also had
abnormal reversed flow in the fetal venous sys-
tem, which has previously been reported to be
associated with aneuploidy.10 Similar to our
findings, shortened long bones were also visual-
ized in the case of Pinette et al.7 Growth restric-
tion appears to be a very common finding, as
reported by McDuffie.6 In reviewing various
reports, McDuffie6 found that of cases born after
20 weeks’ gestation, 85% (11 of 13) were small for
gestational age.6 Of the trisomy 9 cases detected
on sonography, including our own, 75% (6 of 8)
had intrauterine growth restriction (Table 1).
We found the sonographic appearance of the
hands to be peculiar and unique. Benacerraf et
al5 first reported clenched hands in their case
of trisomy 9 at 31 weeks, with rigid extension at
the metacarpal–first phalangeal joints but con-
traction at the proximal and distal interpha-
langeal joints. In the case described by
Roshanfekr et al,3 gross examination of the
neonate’s hands (not detected sonographical-
ly) revealed findings similar to ours: hands
loosely clenched in a peculiar way, with fingers
flexed at the distal interphalangeal joints. The
fetus in our case also had peculiarly angulated
fingers on sonography that appeared to be
deviated laterally (Fig. 2). Joint anomalies,
including an abnormal position of the digits,
have previously been described with trisomy
9.4 As Pinette et al7 described in their case, we
also found rocker-bottom feet in our fetus.
We found cardiomegaly on sonography, and to
our knowledge, this is the first report of that
sonographic finding in a fetus with trisomy 9.
Benacerraf et al5 found this also, but only at
autopsy. Including our own case, 75% (6 of 8) of
the trisomy 9 cases had cardiac anomalies
detected on sonography. Congenital heart
defects are known to be found clinically in 60% of
patients with trisomy 9.2 Fifty percent of fetuses
with trisomy 9 (including ours) had central ner-
vous system malformations detected sono-
graphically. Intracranial anomalies have been
noted in 65% of patients with trisomy 92 and may
include hydrocephalus, a Dandy-Walker malfor-
mation, and subarachnoid cysts (Table 2).
The craniofacial features we visualized sono-
graphically (sloping forehead, narrow bifrontal
diameter, deep-set eyes, small nose, micro-
427
Sonographic Findings in Nonmosaic Trisomy 9

Table 1. Sonographically Detected Cases of Nonmosaic Trisomy 9 (N = 7)

Gestational Age
Report (Menstrual Age), wk Testing Sonographic Findings Outcome

Benacerraf et al (1992)5 Case 1: 16 Amnio Case 1: IUGR, congenital Case 1: TOP

heart defect, intrathoracic
mass, hydronephrosis
Case 2: 31 Case 2: IUGR, ventriculomegaly, Case 2: delivery at
NTD, microcephaly, clubfeet, 41 wk, neonatal
death at 24 d
VSD, clenched hands,
polyhydramnios
McDuffie (1994)6 34 FBS IUGR, DWM, single atrium, IUFD (37 wk)
SUA, liver calcifications, abnor-
mal UA Doppler velocimetry
Roshanfekr et al (1998)3 35 Amnio IUGR, SUA, abnormal UA IUFD (37 wk)
Doppler velocimetry
Pinette et al (1998)7 11.7 Amnio Hydrops, cystic hygroma, short IUFD (>17 wk)
long bones, rocker-bottom feet,
decreased cranial calcification
Sandoval et al (1999)8 21, 23 FBS IUGR, polycystic horseshoe kidney, IUFD (33 wk)
absent bladder, anhydramnios,
ASD, dysmorphic facies, microph-
thalmia, cerebellar vermian defect,
UV varix (intra-abdominal)
Murta et al (2000)9 12 CVS Increased NT (9.1 mm), reversed IUFD (>13 wk)
flow in the UV/DV/IVC, bilateral
pyelectasis, EIF, VSD, EB
This study 19, 22 Amnio IUGR, short long bones, abnormal Delivery at 23 wk
head shape, ventriculomegaly,
low-set, malformed, short ears,
abnormal facial profile, large
stomach, intra-abdominal vascular
cystic area, straight portal vein,
abnormal hands, cardiac defects,
rocker-bottom feet, small penis
Amnio indicates amniocentesis; ASD, atrial septal defect; CVS, chorionic villus sampling; DV, ductus venosus; DWM, Dandy-Walker
malformation; EB, echogenic bowel; EIF, echogenic intracardiac focus; FBS, fetal blood sampling; IUFD, intrauterine fetal death;
IUGR, intrauterine growth restriction; IVC, inferior vena cava; NT, nuchal translucency; NTD, neural tube defect; SUA, single umbil-
ical artery; TOP, termination of pregnancy; UA, umbilical artery; UV, umbilical vein; and VSD, ventricular septal defect.

gnathia, and low-set, small, malformed ears) are
characteristic anatomic features of trisomy 9.4
Sandoval et al8 also detected dysmorphic facies
in their case at 23 weeks. It is known that about
65% of patients with trisomy 9 have micro-
cephaly with narrow temples, whereas microph-
thalmia and deep-set eyes are seen in 50%.2
Wooldridge and Zunich11 reviewed a large series
of cases and found craniofacial anomalies to be
present in all cases of trisomy 9. Another study
that examined 15 cases of complete trisomy 9
also found craniofacial abnormalities to be pre-
sent phenotypically in 100%.12 We found the
head shape and facial profile to be distinctive
sonographically.
As a known phenotypic feature described for tri-
somy 9, we visualized a micropenis (shortened
with a small amount of penile tissue visualized),
to our knowledge the first such case reported on
sonography in a fetus with trisomy 9. Assessment
of the urinary system could not be made because
the patient declined autopsy. It is known that uro-
genital abnormalities are seen in 65% of trisomy 9
cases.2 To our knowledge, this is the first report of
the sonographic appearance of a large stomach
and straight portal vein in a fetus with trisomy 9.
The cases described in the literature, including
our own, confirm that although the karyotype is
important and essential for diagnosis, the pres-
ence of abnormal sonographic findings serves as

428 J Ultrasound Med 22:425–430, 2003

 Yeo et al

Table 2. Clinical Phenotypic Characteristics of Nonmosaic Trisomy 9

Organ Systems Features
Central Nervous Hydrocephalus, Dandy-Walker malformation, subarachnoid cysts
Craniofacial Microcephaly, dolicocephaly, prominent occiput, wide fontanels/sutures,
microphthalmia/anophthalmia, deep-set eyes, small, up-slanting palpebral fissures,
broad, flat, bulbous nose, low-set, rotated, malformed ears, micrognathia, cleft lip/
palate, short or webbed neck
Cardiovascular ASD, VSD, DORV, PDA, arterial coarctation, persistent left SVC, bicuspid pulmonic valve,
hypoplastic LA or LV, pulmonic stenosis, SUA
Skeletal Short long bones, joint dislocation, abnormal hands/feet, abnormal ribs/clavicles,
hypoplastic pelvic bones
Genitourinary Hypoplastic genitalia, cryptorchidism, hypospadias, double collecting system, subcapsular
renal cyst, hydronephrosis, duplication renal artery, renal hypoplasia/aplasia
Other Growth restriction, developmental delay
ASD indicates atrial septal defect; DORV, double-outlet right ventricle; PDA, patent ductus arteriosus; LA, left atrium; LV,
left ventricle; SUA, single umbilical artery; SVC, superior vena cava; and VSD, ventricular septal defect.

important additional information that lends
support to the karyotypic diagnosis of trisomy 9.
Saura et al13 concluded in their review that every
case of nonmosaic trisomy 9 diagnosed via
amniocentesis was always associated with sono-
graphic abnormalities.13
When we evaluated this case initially on
sonography, our suspicion of fetal aneuploidy
was for trisomy 18, because there was
intrauterine growth restriction, an abnormal
head shape, cranial findings, cardiac defects,
shortened ear length, and abnormal hand pos-
turing. Benacerraf et al5 also noted that there
are often similarities among the sonographic
characteristics of trisomies 9 and 18. However,
although fetuses with trisomy 18 often have
completely clenched hands, we found our
fetus to have different hand features. Never-
theless, when fetal sonographic abnormalities
are present that are indicative of trisomy 18,
trisomy 9 should also be included in the differ-
ential diagnosis.
Because trisomy 9 is a lethal diagnosis, it is
important to make this diagnosis prenatally,
inasmuch as this may affect obstetric manage-
ment, including the mode of delivery. In the lit-
erature, complete trisomy 9 has been shown to
be a fatal diagnosis. For instance, in the cases
with a diagnosis on the basis of prenatal sonog-
raphy (except for the 2 cases in which the preg-
nancies were terminated), all fetuses with
trisomy 9 either died in utero or after birth.
Detection of an abnormal karyotype is also
important for providing patients with accurate
information for future genetic counseling.
Therefore, any pattern of sonographic malfor-
mations that includes growth restriction, central
nervous system or craniofacial defects, and car-
diovascular, skeletal, and genitourinary abnor-
malities should lead one to suspect autosomal
trisomy, including trisomy 9.
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