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Tricuspid Atresia

Introduction Tricuspid atresia (TA) is a rare form of congenital heart disease (CHD) that usually involves severe hypoplasia of the right ventricle. Prenatal diagnosis of TA and associated intracardiac and extracardiac anomalies is possible with a high degree of accuracy. Disease Definition TA is defined by the lack of connection between the right atrium and the right ventricle. The most common form is the absence of…

Atrioventricular Septal Defect

Introduction Atrioventricular septal defect (AVSD) is one of the most commonly diagnosed congenital heart diseases (CHDs) during fetal life and affects 4% to 5% of newborns with a CHD. AVSDs have a strong association with Down syndrome and frequently occur in combination with other CHDs. Disease Definition The term AVSD covers a spectrum of CHDs characterized by a common deficient separation in the atrioventricular junction. AVSD…

Ultrasound of Normal Fetal Heart

Introduction Congenital heart diseases (CHDs) are the most common severe congenital malformations, affecting 0.8% to 1% of newborns. Approximately half of the CHDs are severe defects. The overall mortality of a CHD diagnosed prenatally ranges from 25% to 35%, and about 15% of children born with a CHD die before they reach adolescence. Overall, the risk of associated chromosomal aneuploidy lies between 15% and 30%, with…

Congenital High Airways Obstruction Syndrome (CHAOS) and Bronchial Atresia

Introduction Congenital high airway obstruction syndrome (CHAOS) is a rare fetal anomaly that is associated with a high mortality (80%–100%). Prenatal diagnosis is clinically relevant in parental counseling and decision making regarding fetal surveillance, planning of fetal intervention, method of delivery, and postnatal management. CHAOS can be bilateral or unilateral (bronchial atresia). Disorder Definition CHAOS is an extremely rare condition consisting of complete intrinsic obstruction of…

Fetal Thyroid Masses and Fetal Goiter

Introduction The prenatal diagnosis of fetal goiter was first described in 1980. Advances in prenatal imaging and fetal hormonal physiology have enabled the identification of some severe but treatable disorders in the fetus. The potential benefits to the fetus of any prenatal treatment regimen must be carefully weighed against the potential risks to the fetus and the mother. Disease Definition Fetal goiter is an enlargement of…

Neck Teratoma

Introduction Fetal tumors are rare; teratomas are the most common histologic type. The neck is the most common location after the sacrococcygeal area for teratomas. The tissues found in fetal and infant teratomas are essentially the same regardless of the site of origin. A neck teratoma may be associated with neonatal mortality in 80% to 100% of cases if delivery is not managed properly. For large…

Cystic Hygroma

Introduction Cystic hygroma (CH) is a congenital lymphatic malformation. It is the most frequently observed fetal neck pathology on prenatal ultrasound (US). Disease Definition CH is an abnormality of the vascular lymphatic system, characterized by the development of distended fluid-filled spaces, typically affecting the fetal neck (80% of cases). Based on the presence of septations, it can be classified into septated or nonseptated CH . Prevalence…

Facial Dysmorphism

Introduction Facial dysmorphism is a classical feature of many syndromes, and commonly includes one or a combination of facial features such as low-set ears, hypotelorism or hypertelorism, micrognathia or retrognathia, frontal bossing, and sloping forehead. Considering some of these features are detectable prenatally, facial assessment in routine ultrasound (US) could lead to the diagnosis of chromosomal anomalies or polymalformative syndromes. Disease Definition Facial dysmorphism includes all…

Micrognathia and Retrognathia

Introduction The fetal mandible is a common site for defects caused by numerous genetic conditions and adverse environmental factors. When an anomaly in the fetal mandible is detected on ultrasound (US), the clinician should look for other anomalies in the fetal anatomy because such associations are frequent. Disease Definition Retrognathia refers to a facial malformation characterized by abnormal development of the mandible with an abnormal position…

Choanal Atresia

Introduction Congenital choanal atresia is an uncommon condition resulting from a failure of the oronasal membrane to break down. Prenatal diagnosis of choanal atresia is rarely described, and postnatal confirmation is required. However, this condition can be suspected in the presence of nose anomalies, mainly if other fetal anomalies are present. Disease Definition Choanal atresia is a congenital obstruction of the posterior nasal apertures. Prevalence and…

Orbital Defects : Hypertelorism and Hypotelorism

Introduction Orbits can be identified from 10 to 12 weeks of gestation by transvaginal ultrasound. On ultrasound evaluation, orbits appear as echolucent circles, and inside these structures lenses can be indentified as small echogenic circular structures. In normal development, ocular structures develop laterally and migrate toward the midline to reach their final position. Orbital defects are rarely diagnosed in the fetus. However, these anomalies are highly…

Cleft Lip and Palate

Introduction Orofacial clefts, which include cleft lip (CL), cleft lip and palate (CLP), and cleft palate alone (CP), include a range of disorders affecting the lips and oral cavity, and represent the most common craniofacial malformation identified in the newborn. They can occur as a part of a syndrome involving multiple organs or as isolated malformations. Disorder Definition Orofacial clefts represent all those defects involving the…

Clubfoot (Talipes Equinovarus)

Introduction Talipes equinovarus (clubfoot) is an abnormality of the foot position. It may be positional, congenital (isolated), or part of a syndrome. Clubfoot resulting from in utero positional forces, as may occur with prolonged severe oligohydramnios, multiple gestation, or breech presentation, is not a “true” clubfoot in that the deformity can usually be corrected by manual manipulation of the foot. Disease Definition Clubfoot is a foot…

Clubfoot (Talipes Equinovarus) and Clenched Hands

Introduction Congenital contractures in the newborn are actually common, ranging from 1 : 100 to 1 : 200 for some types of contractures that include clubfeet, hip dislocations, and multiple congenital contractures (MCCs). Talipes equinovarus or clubfoot is an abnormality of the foot position. It may be positional, an isolated abnormality, or part of a larger constellation of abnormalities as seen in many genetic syndromes. Clubfoot resulting from in utero…

Craniosynostosis

Introduction The development of the fetal skull is a complex process involving intramembranous and endochondral ossification. The fetal cranium comprises bony plates that are joined together by areas of dense fibrous tissue termed cranial sutures, comprised of the sagittal, coronal, lambdoid, and metopic sutures ( Fig. 62.1 ). The membranous sutures allow for expansion of the calvaria to accommodate rapid human brain growth prenatally and postnatally.…

Abnormal Hands: Focus on the Thumbs

Introduction Routine second-trimester ultrasound (US) examination typically involves only a cursory evaluation of the extremities, documenting the presence or absence of the arms and legs; however, comprehensive evaluation of the fetal extremities often yields critical information. Anomalies of the hands are difficult to diagnose, and malformations range from subtle deformities, such as isolated fifth-finger clinodactyly, to complete absence of extremities, as seen in phocomelia syndromes such…

Spinal Abnormalities and Klippel-Feil Syndrome

Introduction Spinal malformations associated with vertebral segmentation defects and progressive fusions are seen in numerous syndromes, particularly those associated with skeletal dysplasias. Among spinal malformations, one of the best-described constellation of findings is Klippel-Feil syndrome (KFS), a triad of short neck, low posterior hairline, and limitation of head and neck movements. The original case report described a patient with significant kyphosis secondary to congenital fusions of…

Caudal Regression Syndrome

Introduction Caudal regression syndrome (CRS), also known as caudal regression sequence, caudal dysplasia, caudal aplasia, femoral hypoplasia, phocomelic diabetic embryopathy, or sacral agenesis , is a spectrum of anomalies involving the caudal end of the trunk. The pathogenesis involves abnormal differentiation of the developing spine, spinal cord, and caudal mesoderm. Although CRS is rare in the general population, maternal hyperglycemia is thought to play an important…

Acrofacial Dysostosis

Introduction Among newborns with birth defects, approximately one-third show craniofacial abnormalities, which cause significant morbidity and mortality. More than 700 distinct craniofacial syndromes have been described to date. Facial dysostoses can be divided into two types: mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). MFDs have typically no limb defects, while AFDs are associated with limb abnormalities. At least eight MFDs have been described, with the most…