J Korean Med Assoc.  2015 Nov;58(11):1003-1010. 10.5124/jkma.2015.58.11.1003.

Screening ultrasonography in pregnancy

• Jeong BD
• Won HS

• KMID: 2195129
• DOI: http://doi.org/10.5124/jkma.2015.58.11.1003

Abstract

Ultrasonography in obstetrics is increasingly used for the screening of chromosomal abnormalities as well as for prenatal diagnosis of congenital abnormalities with safety and technological advancements. In the first trimester, it is important to confirm normal intrauterine pregnancy with viability, detect the abnormalities of uterus and adnexa, determine the number of fetuses and assess chorionicity and amnionicity in case of multiple pregnancy. After establishment of gestational age accurately by crown-rump length, thickened fetal nuchal translucency, absence of nasal bone, tricuspid regurgitation, reverse a wave of ductus venosus and cystic hygroma can be markers for screening of chromosomal abnormalities. In addition, the scan also offers an opportunity to detect gross structural abnormalities, which could help improve the prognosis by early prenatal intervention. In the second trimester, aneuploidy (trisomy 21, 18, 13, Turner syndrome) and genetic syndromes could be detected by major structural defects and soft markers. It is important to consider that many malformations may not be detected prenatally even by qualified practitioners and appropriate equipment, and to counsel patients about the potential for false-positive or false-negative results.

Keyword

Prenatal ultrasonography; Congenital abnormalities; Chromosome aberrations; Trisomy

MeSH Terms

Amnion
Aneuploidy
Chorion
Chromosome Aberrations
Congenital Abnormalities
Crown-Rump Length
Female
Fetus
Gestational Age
Humans
Lymphangioma, Cystic
Mass Screening*
Nasal Bone
Nuchal Translucency Measurement
Obstetrics
Pregnancy Trimester, First
Pregnancy Trimester, Second
Pregnancy*
Pregnancy, Multiple
Prenatal Diagnosis
Prognosis
Tricuspid Valve Insufficiency
Trisomy
Ultrasonography*
Ultrasonography, Prenatal
Uterus

Figure

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  Figure 1 Measurement of crown-rump length (arrow) in the mid-sagittal plane of the fetus.

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  Figure 2 Ultrasound image in the mid-sagittal plane of the fetus showing the nuchal translucency (NT), nasal bone (NB) and intracranial translucency (IT). Th, thalamus; MB, midbrain; BS, brain stem; CM, cisterna magna.

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  Figure 3 Ultrasound image of the fetus with increased nuchal translucency thickness (3.4 mm) at 12.3 weeks of gestation.

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  Figure 4 (A) Color and (B) pulsed wave Doppler of tricuspid regurgitation at 12.4 weeks of gestation.

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  Figure 5 Abnormal Doppler waveforms across the ductus venosus in the parasagittal plane of the fetus at 11.6 weeks of gestation.

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  Figure 6 Cystic hygroma with generalized skin edema (A) in the sagittal plane and (B) the transverse plane of the fetal head at 12.1 weeks of gestation. CRL, crown-rump length.

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  Figure 7 First trimester structural abnormalities. (A) Holoprosencephaly; monoventricle with absent butterfly sign in the transverse plane of the fetal head at 12.5 weeks of gestation. (B) Amniotic band syndrome; thin membranes (arrow) attached to the lower extremities resulted in limb defects at 11.5 weeks of gestation. (C) Acrania; calvarium was absent and remained cranial contents protruded above orbits in the sagittal plane of the fetus at 12.5 weeks of gestation. (D) Bladder outlet obstruction; an enlarged bladder was observed in the male fetus at 13.1 weeks of gestation. Posterior urethral valves was confirmed postnatally and renal function was normal with prenatal vesico-amniotic shunting.

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  Figure 8 Second trimester sonographic findings in trisomy 21. (A) Absent nasal bone in the mid-sagittal plane of the fetal profile. (B) Cystic hygroma in the transverse plane of the fetal head. (C) Atrioventricular septal defect in the four-chamber view of the fetal heart. (D) Duodenal atresia; the double-bubble sign in the transverse plane of the fetal abdomen.

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  Figure 9 Typical second trimester ultrasonographic findings in trisomy 18. (A) Bilateral choroid plexus cysts and (B) strawberry-shaped skull in the transverse plane of the fetal head. (C) Clenched hands with overlapping fingers and (D) rocker bottom foot in 3D image. (E) Club foot; the plantar surface of the foot was seen in the same plane as the tibia.

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  Figure 10 Second trimester structural anomalies in trisomy 13. (A) Holoprosencephaly; monoventricle and fused thalamus in the transverse plane of the fetal head. (B) Omphalocele; the transverse plane of the fetal abdomen showed 11×12mm sized herniated mass into the umbilical cord. (C) Proboscis; coronal image of the face showed protruding tissue above the orbit.

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  Figure 11 Cystic hygroma with generalized edema in the sagittal plane (A) and the transverse plane (B) of the fetus with Turner syndrome at 16.5 weeks of gestation.

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  Figure 12 Second trimester ultrasonographic findings in CATCH 22 syndrome. (A) Absent thymus in the 3-vessel view of the fetal heart. (B) Interrupted aortic arch; the ascending aorta was straight and a transverse aortic arch was not demonstrated.

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