**10. Personal experience**

We selected from our archive several suggestive cases of limb abnormalities (**Figures 8**–**19**):

**Figure 8.** Trisomy 18, diagnosed in early pregnancy. The left image composite shows (A) the abnormal facial profile, the nuchal edema, and the absent nasal bone; (B) multiple choroid plexus cysts; (C) axial plane of the fetal thorax with dextroposition of the fetal heart and presence of the stomach in the thorax, both suggesting diaphragmatic hernia; (D) single umbilical artery crossing lateral to the fetal bladder; and (E) skeletal abnormality and persistent malposition of the fetal arm. In the right-hand image—a detail: the radial aplasia, very characteristic for the syndrome.

**Figure 9.** 3D ultrasound images (surface rendering mode), applied in a case of polydactyly. The case was scanned in the first trimester, and the volume was acquired by means of transvaginal scan.

The upper limb anomalies (and especially radial hypoplasia or aplasia) are phenotypical fea-

\*\*Normal measurements is related to an accurate gestational age, ideally established in the first trimester of pregnancy.

**Midsegments**

Normal (N)\*\* N N N Rhizomelia Short N N Mesomelia N Short N Acromelia N N Short Micromelia Short Short Short

**(Radius and ulna/tibia and Fibula)**

**Distal segments (Hand and foot)**

The primary advantage of prenatal diagnosis of upper extremity anomalies is the opportunity for more refined prenatal counseling [44]. Parents are given the chance to discuss their child's diagnosis with a variety of specialists and to receive genetic counseling. For treatable anomalies, a team may be assembled to prepare for postnatal care. Some families will consider pregnancy termination for major untreatable anomalies, and several studies have shown higher rates of pregnancy termination after early prenatal diagnosis of major untreatable anomalies

We selected from our archive several suggestive cases of limb abnormalities (**Figures 8**–**19**):

**Figure 8.** Trisomy 18, diagnosed in early pregnancy. The left image composite shows (A) the abnormal facial profile, the nuchal edema, and the absent nasal bone; (B) multiple choroid plexus cysts; (C) axial plane of the fetal thorax with dextroposition of the fetal heart and presence of the stomach in the thorax, both suggesting diaphragmatic hernia; (D) single umbilical artery crossing lateral to the fetal bladder; and (E) skeletal abnormality and persistent malposition of the

fetal arm. In the right-hand image—a detail: the radial aplasia, very characteristic for the syndrome.

tures of a number of syndromes.

**Table 2.** Terminology in long bone abnormalities.

**Proximal**

318 Congenital Anomalies - From the Embryo to the Neonate

**(Humerus/femur)**

The term does not include the malformation, fractures, or absence of the bones.

**10. Personal experience**

[25, 28, 29, 45].

**Limbs segments**

**Term\***

\*

**Figure 10.** 3D ultrasound images (surface rendering mode), applied in cases of polydactyly in the second trimester; the volume datasets were acquired by means of transabdominal scan. The images were used in the parental counseling process.

**Figure 11.** Ectrodactyly: conventional 2D ultrasound, 3D ultrasound skeletal mode, and pathological specimen correlated.

**Figure 12.** Unilateral postaxial polydactyly type I. Different techniques for acquiring the 3D volume datasets: surface rendering, skeletal mode, and HD life. The case evolved with spontaneous amputation in utero (reproduced with permission of authors) [39].

**Figure 13.** Different cases of clubfoot.

**Figure 14.** A paucisymptomatic case of trisomy 18, diagnosed in the late first trimester. The upper row demonstrated the ultrasound features: club hand, bilateral pyelectasis, atrioventricular defect, abnormal spectral Doppler at the tricuspid valve interrogation, and unremarkable profile. All these features were compared with the pathological specimen details. The added information were horseshoe kidneys and low set years.

**Figure 16.** A rare case of complex severe facial malformation, in association with tetraamelia. The 2D conventional

The Antenatal Detection of Fetal Limb Anomalies http://dx.doi.org/10.5772/intechopen.76108 321

ultrasound, the 3D static surface rendering mode, and the pathologic data are correlated.

**Figure 17.** Bilateral clubfoot (genu varum), seen prenatally and post abortion.

**Figure 15.** Persistent abnormal hand position. The ultrasound and pathologic data are displayed (the thumb overlapping finger 2). In this case trisomy 13 was diagnosed. The fetus had multiple-associated congenital malformations.

**Figure 13.** Different cases of clubfoot.

320 Congenital Anomalies - From the Embryo to the Neonate

**Figure 14.** A paucisymptomatic case of trisomy 18, diagnosed in the late first trimester. The upper row demonstrated the ultrasound features: club hand, bilateral pyelectasis, atrioventricular defect, abnormal spectral Doppler at the tricuspid valve interrogation, and unremarkable profile. All these features were compared with the pathological specimen details.

**Figure 15.** Persistent abnormal hand position. The ultrasound and pathologic data are displayed (the thumb overlapping

finger 2). In this case trisomy 13 was diagnosed. The fetus had multiple-associated congenital malformations.

The added information were horseshoe kidneys and low set years.

**Figure 16.** A rare case of complex severe facial malformation, in association with tetraamelia. The 2D conventional ultrasound, the 3D static surface rendering mode, and the pathologic data are correlated.

**Figure 17.** Bilateral clubfoot (genu varum), seen prenatally and post abortion.

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**Figure 18.** A case of fetal akinesia deformation sequence. The fetus had a complete normal 12 weeks of scan. The mother self-presented for decreased active fetal movements. The matching details obtained by means of volumetric ultrasound and pathology can be observed: Abnormal feet position[a], campylodactyly [b], ulnar deviation of the hands [c], multiple joints contracture (arthrogryposis) [b, c, d], short neck, facial anomalies, hypertelorism, telecanthus, posterior angulation of the ears, and small mouth [c, d].

**Figure 19.** Abnormal position of the hand, with camptodactyly and overlapping fingers.
