Ob Gyn Sonography

ARDMS

Nuchal Edema    Fetal nuchal edema during the second and third trimester of pregnancy is an ominous sonographic finding that has been associated with a variety of chromosomal aberrations; when a cystic hygroma is present, the diagnosis is often Turner's syndrome. This report assessed the usefulness of first-trimester nuchal edema as a marker for an abnormal fetal karyotype. Investigators performed first-trimester screening, including ultrasound and either amniocentesis or chorionic villus sampling, in 827 pregnant women. The fetal karyotype was abnormal in 28 pregnancies (3 percent). Fifty-one fetuses had significant nuchal edema, and 18 of these (35 percent) had abnormal chromosome studies. In most fetuses with nuchal edema and normal chromosome studies, follow-up scans showed resolution of the edema.

Nuchal Edema

Fetal nuchal edema during the second and third trimester of pregnancy is an ominous sonographic finding that has been associated with a variety of chromosomal aberrations; when a cystic hygroma is present, the diagnosis is often Turner's syndrome. This report assessed the usefulness of first-trimester nuchal edema as a marker for an abnormal fetal karyotype. Investigators performed first-trimester screening, including ultrasound and either amniocentesis or chorionic villus sampling, in 827 pregnant women. The fetal karyotype was abnormal in 28 pregnancies (3 percent). Fifty-one fetuses had significant nuchal edema, and 18 of these (35 percent) had abnormal chromosome studies. In most fetuses with nuchal edema and normal chromosome studies, follow-up scans showed resolution of the edema.

Hypotelorism    Orbital hypotelorism results from developmental abnormalities of the telencephalon, which is a derivative of the forebrain. It is strongly associated with holoprosencephaly.    The major concern regarding the finding of fetal hypotelorism is its association with midline craniofacial defects and major cerebral anomalies.

Hypotelorism

Orbital hypotelorism results from developmental abnormalities of the telencephalon, which is a derivative of the forebrain. It is strongly associated with holoprosencephaly.

The major concern regarding the finding of fetal hypotelorism is its association with midline craniofacial defects and major cerebral anomalies.

Hypertelorism    Abnormal large distance between the eyes. It refers to the position of the bony orbits, the ‘eye sockets,’ in which the eyes lie, in the skull .   Syndromes Associated with Hypertelorism:    - Frontonasal dysplasia    - Frontal encephalocoeles    - Craniosynostosis syndromes    - Aperts syndrome    - Saethre Chotzen syndrome    - Pfeiffer syndrome    - Crouzon syndrome    - DiGeorge syndrome    - Hydrolethalus syndrome    - Coffin Lowry syndrome    - Noonan syndrome    - Larsen syndrome

Hypertelorism

Abnormal large distance between the eyes. It refers to the position of the bony orbits, the ‘eye sockets,’ in which the eyes lie, in the skull.

Syndromes Associated with Hypertelorism:

- Frontonasal dysplasia

- Frontal encephalocoeles

- Craniosynostosis syndromes

- Aperts syndrome

- Saethre Chotzen syndrome

- Pfeiffer syndrome

- Crouzon syndrome

- DiGeorge syndrome

- Hydrolethalus syndrome

- Coffin Lowry syndrome

- Noonan syndrome

- Larsen syndrome

Cleft Lip

Cleft Lip

Cleft Lip

Cleft Lip

Hypophosphatasia    This is due to an inborn deficiency of the tissue non-specific alkaline phosphatase (TSALP) gene in osteoblasts and chondrocytes that impairs bone mineralization. It is an inherited skeletal dysplasia with a variable inheritance pattern.    Typical findings of HC include severe micromelia, decreased thoracic circumference (the hallmark of fetal osseous dysplasia), diffuse hypomineralization (decreased echogenicity) involving all the bones except for clavicles, and a normal trunk length.

Hypophosphatasia

This is due to an inborn deficiency of the tissue non-specific alkaline phosphatase (TSALP) gene in osteoblasts and chondrocytes that impairs bone mineralization. It is an inherited skeletal dysplasia with a variable inheritance pattern.

Typical findings of HC include severe micromelia, decreased thoracic circumference (the hallmark of fetal osseous dysplasia), diffuse hypomineralization (decreased echogenicity) involving all the bones except for clavicles, and a normal trunk length.

Short Rib Polydactyly Syndrome    Short-rib polydactyly syndrome is a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype.    Ultrasound findings include Micromelia, short ribs with hypoplastic thorax, and polydactyly (usually preaxial).

Short Rib Polydactyly Syndrome

Short-rib polydactyly syndrome is a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype.

Ultrasound findings include Micromelia, short ribs with hypoplastic thorax, and polydactyly (usually preaxial).

Schizencephaly    A developmental disorder of the brain characterized by abnormal slits (splits into anterior and posterior parts), or clefts, in the cerebral hemispheres (Bilateral and Symmetrical). Schizencephaly is a form of porencephaly.

Schizencephaly

A developmental disorder of the brain characterized by abnormal slits (splits into anterior and posterior parts), or clefts, in the cerebral hemispheres (Bilateral and Symmetrical). Schizencephaly is a form of porencephaly.

Porencephaly    Cystic defect of the cerebral hemisphere or within the cerebral parenchyma, typically extending from the lateral ventricle to the surface of the brain. May be caused by hemorrhage or encephalomalacia.    Ultrasound findings include simple cysts in the cerebral parenchyma.

Porencephaly

Cystic defect of the cerebral hemisphere or within the cerebral parenchyma, typically extending from the lateral ventricle to the surface of the brain. May be caused by hemorrhage or encephalomalacia.

Ultrasound findings include simple cysts in the cerebral parenchyma.

Cystic Hygroma

Cystic Hygroma

Holoprosencephaly

Holoprosencephaly

Holoprosencephaly    This is an incomplete or absent division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemispheres.    Caused by Trisomy 13 and maternal infections. Associated with cyclopia and hypotelerism.

Holoprosencephaly

This is an incomplete or absent division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemispheres.

Caused by Trisomy 13 and maternal infections. Associated with cyclopia and hypotelerism.

Lissencephaly    Fetal brains don’t fold properly and remain smooth. This condition can affect a baby’s neural function and symptoms can be severe.

Lissencephaly

Fetal brains don’t fold properly and remain smooth. This condition can affect a baby’s neural function and symptoms can be severe.

Hydranencepaly    In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid caused by bilateral internal carotid artery occlusion or malformation. Midbrain is usually not involved.    Ultrasound findings include:    - Polyhydramnios    - Lack of cerebral tissue    - Macrocephaly

Hydranencepaly

In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid caused by bilateral internal carotid artery occlusion or malformation. Midbrain is usually not involved.

Ultrasound findings include:

- Polyhydramnios

- Lack of cerebral tissue

- Macrocephaly

Dandy-Walker Malformation    This is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.The syndrome can appear dramatically or develop unnoticed.    Ultrasound findings include:    - Complete or partial agenesis of the cerebral vermis with flattened cerebral hemispheres.    - Large midline cystic structures in posterior fossa.

Dandy-Walker Malformation

This is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.The syndrome can appear dramatically or develop unnoticed.

Ultrasound findings include:

- Complete or partial agenesis of the cerebral vermis with flattened cerebral hemispheres.

- Large midline cystic structures in posterior fossa.

Iniencephaly    Rare neural tube defect, having retroflexion of the head without a neck and severe distortion of the spine with spina bifida and occipital encephalocele.

Iniencephaly

Rare neural tube defect, having retroflexion of the head without a neck and severe distortion of the spine with spina bifida and occipital encephalocele.

Iniencephaly    Ultrasound findings include:    - Neck and head hyperextension    - Occipital encephalocele and spinal bifida    - Fetus is stuck in upright position “star gazing".

Iniencephaly

Ultrasound findings include:

- Neck and head hyperextension

- Occipital encephalocele and spinal bifida

- Fetus is stuck in upright position “star gazing".

Arachnoid Cyst    Ob Gyn Sonography

Arachnoid Cyst

Ob Gyn Sonography

Acrania    Ob Gyn Sonography

Acrania

Ob Gyn Sonography

Arnold Chiari Malformation    Banana Sign     Lemon Sign

Arnold Chiari Malformation

Banana Sign

Lemon Sign

Spina Bifida    Secondary to Arnold Chiari Malformation

Spina Bifida

Secondary to Arnold Chiari Malformation

Spina Bifida

Spina Bifida