Sonographic soft marker

The term sonographic soft markers is in the prenatal diagnosis used and refers to those features, the antenatal ( prenatal ) detection by ultrasound is provided and with a statistically mostly slight increase in the likelihood of being a chromosome specificity and / or physical malformations and / or certain diseases in unborn baby can be linked.

Sonographic soft markers are detected or excluded by means of ultrasound, often with fine ultrasound (sonographic fine diagnostics / organ screening), or Doppler sonography .

Sonographic soft markers that appear in isolation, i.e. corresponding peculiarities that exist without any further abnormalities, are often harmless.

Combined sonographic soft markers, i.e. corresponding peculiarities that exist in connection with other peculiarities, increase the likelihood of changes in the baby.

As sonographic soft markers z. B. considered:

Increased neck transparency

An unusually large build-up of fluid in the neck area of ​​the unborn baby. An enlarged nuchal translucency is considered as soft marker for

• Heart defects or functional disorders of the heart (cardiovascular changes), in particular coarctation of the aorta , i.e. a narrowing of the transition between the aortic arch and the thoracic aorta ( thoracic artery ).
• Malformations of the lungs (pulmonary changes)
• Skeletal malformations
• Disruption of lymphatic vessel development
• Congestion of vessels on the neck and / or head
• Trisomy 10
• Patau syndrome (trisomy 13)
• Edwards syndrome (trisomy 18, partly hydrops fetalis )
• Down syndrome (trisomy 21 / sometimes very pronounced accumulation of fluid, sometimes hygroma colli , more rarely hydrops fetalis )
• Trisomy 22
• Triplo-X Syndrome (Trisomy X)
• Tetrasomy 12 p
• Cornelia de Lange Syndrome
• Noonan syndrome (Turner-like syndrome - sometimes very pronounced accumulation of fluid)
• Turner syndrome (monosomy X / sometimes very pronounced accumulation of fluid, which in severe forms, in which there is usually a heart defect - typically coarctation of the aorta - can also have spread over the forehead, back, chest, abdomen and back of the baby's feet: cystic neck hygroma , hygroma colli , hydrops fetalis , isolated hydrothorax , ascites )
• Smith-Lemli-Opitz syndrome
• Joubert syndrome
• Ectrodactyly-ectodermal dysplasia syndrome
• Multiple pterygia syndrome , partly dorsonuchal edema , cystic hygroma colli , hydrops fetalis
• Fryns syndrome , partly hydrops fetalis
• thanatophoric dysplasia
• Achondrogenesis
• Early fetofetal transfusion syndrome : In pregnancies with monochorionic diamniotic twins with early onset fetofetal transfusion syndrome, the neck transparency is often greater in the acceptor (larger twin) than in the donor (smaller twin), sometimes hydrops fetalis
• Diaphragmatic hernia ( diaphragmatic hernia )
• Umbilical hernia ( umbilical hernia )

Dorsonuchal edema

As Dorsonuchales edema a pronounced accumulation of liquid is known that in large parts of the back (dorsal) and in the back of the head and neck (nuchal) consists of the unborn child. It is considered a soft marker for in particular:

• Heart defect
• Multiple pterygia syndromes
• Turner Syndrome (Monosomy X)
• Down syndrome (trisomy 21)

Hydrops fetalis

As fetal hydrops a large accumulation of fluid is called, which has often spread over large parts of the body of the unborn child. This peculiarity occurs frequently with:

• Heart defects , especially coarctation of the aorta (narrowing of the transition between the aortic arch and the thoracic aorta / thoracic artery )
• Malformations of the lungs
• Chylothorax
• Ullrich-Turner syndrome (monosomy X)
• Noonan syndrome (Turner-like syndrome)
• Edwards syndrome (trisomy 18)
• Multiple pterygia syndrome
• Fryns Syndrome
• less often Down syndrome (trisomy 21)
• various metabolic diseases
• fetal anemia ( anemia in the unborn child), often due to parvovirus B19 infection ( rubella ) in the pregnant woman.

Choroid plexus - cysts

Cystic structures around the choroid plexus in the unborn brain . Plexus cysts are considered soft markers for:

• Edwards syndrome (trisomy 18 - before the 24th week of pregnancy plexus cysts are detectable in approx. 43% of the children and more often than on average even after the 28th week. Some particularly large cysts)

White spots (golf ball phenomenon)

White spots are small, golf ball-shaped, hyperechoic areas in one or both heart chambers of the unborn child. White spots are considered soft markers for:

• Trisomy 9 (also Rethoré syndrome)
• Patau syndrome (trisomy 13)
• Down syndrome (trisomy 21)

Comparatively short long bones

The length of the bones of the femur (thigh) and / or humerus (upper arm) in the child is below the 5th percentile of gestational age or an absolute shortening compared to the other average values ​​can be determined. Short tubular bones are considered soft markers for:

• Down syndrome (trisomy 21)
• Turner Syndrome ( Monosomy X )
• Triploidy
• Short stature (various forms)

Hypoplastic nasal bone

The nasal bone is below average or not (yet) ossified as usual and the nasal saddle appears deep (snub nose). A hypoplastic nasal bone is considered a soft marker for:

• Cornelia de Lange Syndrome
• Down syndrome (trisomy 21)

Sandal gap / sandal furrow

In the case of a so-called sandal gap, there is an unusually large distance between the first and second toes (1st and 2nd ray), which is created by the position of the big toes being offset outwards parallel to the second toes. A gap in a sandal is a soft marker for:

• Trisomy 8
• Patau syndrome (trisomy 13)
• Edwards syndrome (trisomy 18)
• Down syndrome (trisomy 21)

Unusual head shape and / or head size

The child's skull has an unusual shape, e.g. B. Brachycephaly , strawberry sign ( Erdbeer -form - strawberry-shaped head ), lemon sign ( Arnold-Chiari-Malformation : the front head area appears indented in the horizontal section due to the sinking of the frontal bones , which causes a resemblance to the appearance of a squeezed lemon half) , banana sign (the cerebellum appears underdeveloped and curved in the shape of a banana in the horizontal section ), microcephaly (unusually small head), macrocephaly (unusually large head). Special features of the head shape and / or size are considered soft markers for:

• Arthrogryposis (soft marker: microcephaly)
• Cornelia de Lange Syndrome (soft marker: microcephaly)
• Cri du chat syndrome ( deletion 5p - soft marker: microcephaly)
• Diabetes mellitus in pregnant women (soft marker: microcephaly)
• Edwards syndrome (trisomy 18 - soft marker: microcephaly, strawberry sign )
• Fanconi anemia (soft marker: microcephaly)
• Freeman-Sheldon syndrome (soft marker: microcephaly)
• Hydrocephaly (soft marker: macrocephaly )
• Jacobsen syndrome ( deletion 11q - soft marker: microcephaly)
• Meckel-Gruber syndrome (soft marker: microcephaly)
• Miller-Dieker syndrome (soft marker: microcephaly)
• Multiple pterygia syndrome (soft marker: microcephaly)
• Neu Laxova syndrome (soft marker: microcephaly)
• Pätau syndrome (trisomy 13 - soft marker: microcephaly, brachycephaly )
• Rethoré syndrome ( partial trisomy 9 - soft markers: microcephaly, scaphocephaly )
• Roberts syndrome (soft marker: microcephaly)
• Seckel syndrome (soft marker: microcephaly)
• Smith-Lemli-Opitz syndrome (soft marker: microcephaly)
• Shprintzen syndrome (soft marker: microcephaly)
• Spina bifida aperta (soft marker: lemon sign , banana sign )
• Triploidy (soft marker: strawberry sign )
• Walker-Warburg syndrome (soft marker: microcephaly)
• Wolf-Hirschhorn syndrome ( deletion 4p - soft marker: microcephaly)
• Zellweger syndrome ( scaphocephaly )
• Cytomegaly (soft marker: microcephaly)

Clenched fist ("clenched fist")

With this peculiarity, there are crossed / overlapping fingers . Often the fourth finger is on top of the third finger and the fist cannot be opened. This is considered a soft marker for

• Patau syndrome (trisomy 13)
• Edwards syndrome (trisomy 18)
• Pena Shokeir Syndrome ( Pseudo Trisomy 18 )

Echogenic / hypoerechogenic bowel

In the unborn child, the intestinal loops are clearly echo-proof in the ultrasound, i.e. they can be shown as light structures. A hyperechoic intestine is considered a soft marker for

• Intestinal obstruction ( meconium ileus )
• Down syndrome (trisomy 21)

Double bubble phenomenon / double bubble sign

Pictures of a double bubble
Link to the picture
Link to the picture
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The unborn child's stomach is filled with fluid (first bladder / bubble) and the duodenum (duodenum) also has fluid (second bladder / bubble). Because of this, lying side by side, the ultrasound shows the image of a double bubble. The double bubble phenomenon is considered a soft marker for:

• Duodenal atresia , e.g. B. at
  • Down syndrome (trisomy 21)
  • Patau syndrome (trisomy 13)
• Annular pancreas

Echogenic / hyperechogenic kidneys

In the unborn child, the ultrasound shows that the kidneys are significantly more echogenic than the liver . Echogenic kidneys are considered a soft marker for

• Beckwith-Wiedemann syndrome
• infantile polycystic kidneys
• Meckel-Gruber syndrome
• Nephrotic Syndrome
• Patau syndrome (trisomy 13)
• cystic kidney dysplasia

Borderline width of the renal pelvis

The unborn child has mild pyelectasia : the normal width of the renal pelvis depends on the gestational age / gestational age. In the second trimester of pregnancy, there is a slight renal pelvis width from a value of more than 4.5 mm in the anterior-posterior diameter. A marginal renal pelvis width is a soft marker for:

• Pyelectasia ( enlargement of the renal pelvis ) that develops

(Borderline) expansion of the cerebral ventricles

Slight ventriculomegaly is present: one or both lateral ventricles of the dorsal horn of the unborn child are 8 to 10 mm in diameter - a diameter of more than 10 mm is considered to be a clearly pathological finding. A borderline cerebral ventricle width is considered a soft marker for:

• Achondroplasia
• Apert syndrome
• CHARGE syndrome
• Chondrodysplasia punctata
• Crouzon Syndrome (Cranofacial Dysmorphia Type I)
• Deletion 11q
• Edwards syndrome (trisomy 18)
• Fanconi anemia
• Fryns Syndrome
• Goldenhar Syndrome
• Gorlin-Goltz Syndrome
• Hydroletalus Syndrome
• Kampomele, or metatrophic dysplasia
• Meckel-Gruber syndrome
• Miller-Dieker Syndrome
• Mohr syndrome
• Multiple pterygia syndrome
• Neu Laxova syndrome
• Renal agenesis
• Osteopetrosis
• Patau syndrome (trisomy 13)
• Pfeiffer syndrome
• Roberts Syndrome
• Spina bifida aperta (enlargement of the cerebral ventricles in approx. 75% of cases)
• Spinal dysraphy
• Triploidy
• Trisomy 9
• Walker-Warburg Syndrome
• X-linked hydrocephalus

Single umbilical artery (SUA)

In an average of one out of 100 pregnancies in the umbilical cord in cross-section ultrasound examination, especially in Doppler sonography , there is only one umbilical vein and one umbilical artery instead of the usual two umbilical arteries. One speaks of the singular umbilical artery . A single artery in the umbilical cord is considered a soft marker for:

• Edwards syndrome (trisomy 18) / 5 cases in a study of 102 SUAs
• Patau syndrome (trisomy 13) / 2 cases in the study with 102 SUAs
• Trisomy 9
• Pallister-Killian Syndrome
• VACTERL association
• Heart defects (in 6.25% of cases)
• Malformations in the urogenital tract , especially the kidneys , also kidney agenesis (in about 6.48% of cases)

A study in which 362 fetuses with a single umbilical artery were included showed that concomitant malformations and chromosomal abnormalities in a single umbilical artery can be diagnosed prenatally with great certainty, and that if the findings in the qualified ultrasound examination are normal, the risk of missed malformations is low.

Open vermis cerebelli

Up to about the 18th week of pregnancy, a gap-shaped connection between the fourth cerebral ventricle and the cisterna magna in the brain of an unborn child ( Dandy Walker variant ) is a common finding that can be detected on ultrasound. Evidence must always be provided up to the 13th week. After the 18th week, this peculiarity, which differs from the actual Dandy Walker syndrome in that there is no expansion of the cisterna magna, is considered a soft marker. On its own it is not worrisome, but it does involve more serious changes. An open vermis cerebelli (lat .: vermis = worm + cerebellum = cerebellum) after about the 18th week of pregnancy is considered a soft marker for:

• Arthrogryposis
• CHARGE association
• Edwards syndrome (trisomy 18)
• Ellis van Crefeld syndrome
• Fryns Syndrome
• Joubert syndrome
• Majewski syndrome
• Meckel-Gruber syndrome
• MURCS association
• Neu Laxova syndrome
• Smith-Lemli-Opitz syndrome
• TAR syndrome (thrombocytopenia absent radius syndrome)
• Tetrasomy 12p
• Triploidy
• Trisomy 9

Polyhydramnios

An above-average amount of amniotic fluid with an amniotic fluid index (AFI) of over 25 cm or with a large amniotic fluid reservoir over 8 cm (more than two liters at the appointment) is known as polyhydramnios . It occurs in around 1% of all pregnancies (often in connection with diabetes mellitus in pregnant women / gestational diabetes ) as a rule after the 24th week of pregnancy and can be caused by the growing child drinking little or no amniotic fluid and drinking the liquid therefore accumulates unusually strong, so that sometimes an amniotic fluid puncture has to be performed. In up to 20% of cases with hydramnios, there are peculiarities in the unborn child. A polyhydramnios is considered a soft marker for:

• Achondroplasia (short-limbed short stature )
• Anencephaly
• Beckwith-Wiedemann syndrome
• Accompanying symptom of hydrops fetalis and prenatal infection
• CFC syndrome
• Chorangion ( benign vascular tumor of the placenta )
• Down syndrome (trisomy 21)
• Duodenal stenosis (narrowing of the duodenum )
• Fallot tetralogy (heart defect, consisting of four specific malformations)
• Fetofetal transfusion syndrome (polyhydramnios in the acceptor - the larger twin )
• Fryns Syndrome
• Esophageal stenosis or atresia (narrowing or occlusion of the esophagus )
• Jejunal stenosis (narrowing of the jejunum )
• Congenital syphilis (infection of the pregnant woman with the spirochete Treponema pallidum - the causative agent of syphilis leads to the disease of the unborn child)
• congenital chickenpox - varicella ( varicella zoster virus infection in pregnant women; the risk of infection with the negative consequences for the unborn child is less than 5%)
• Cleft lip and palate
• Majewski syndrome ( short-rib polydactyly syndrome type II - hydramnios can be identified from the second trimester)
• Mediastinal shift (displacement of the middle membrane )
• Meconium peritonitis (intestinal perforation )
• Multiple pterygia syndromes
• Neu Laxova syndrome
• Noonan's Syndrome
• Patau syndrome (trisomy 13)
• Pena Shokeir Syndrome (Pseudo Trisomy 18)
• Rhesus incompatibility (haemolyticus fetalis disease)
• Ringlet rubella (infection with the Parvo-B-19 virus - hydramnios can be determined in severe cases)
• Swallowing disorders (muscular or central)
• Coccyx teratoma ( teratoma - germ cell tumor in the coccyx region )
• Teratomas / germ cell tumors in the brain with cystic and solid areas (hydramnios may develop due to an accompanying swallowing disorder)
• Toxoplasmosis - infection of pregnant women, which is transmitted via the placenta (transplacental) or congenitally to the unborn child and causes serious illnesses in around 10% of cases
• VACTERL association
• Enlargement of the thyroid gland in the unborn child ( fetal goiter , usually due to hypothyroidism , in 70% of children in whom the pregnant woman has Graves' disease )
• Diaphragmatic hernia ( diaphragmatic hernia )
• Cystic fibrosis ( cystic fibrosis )

Oligohydramnios

A below-average amount of amniotic fluid with an amniotic fluid index (AFI) of less than 5.1 cm or larger amniotic fluid depots less than 2 cm is called oligohydramnios . It occurs in about 0.5 to 4% of all pregnancies and can by decreased urine production , or excretion of the growing child, a very strong growth retardation of the baby, a placental insufficiency (power weakness of the placenta ), or by a premature fruit rupture due be so that the amount of fluid decreases unusually sharply and sometimes an amniotic fluid replenishment ( amniotic infusion ) has to be carried out. Oligohydramnios causes comparatively poor conduction of the ultrasonic waves (the less amniotic fluid, the worse the sound conduction). Long-standing and early oligohydramia can a. promote the development of pulmonary hypoplasia (underdevelopment of the lungs ) and club feet . Oligohydramnios is considered a soft marker for:

• Fetofetal transfusion syndrome (oligohydramnios in the donor - the smaller twin )
• Renal agenesis (absence or severe underdevelopment of the kidneys )
• Renal hypoplasia (underdevelopment of the kidneys)
• cystic kidney disease
• Obstructive uropathies
• Triploidy
• Placental insufficiency (poor performance of the mother cake )

See also

serological soft marker , fine ultrasound , prenatal diagnosis , list of syndromes

literature

• Michael Entezami, Mathias Albig, Adam Gasiorek-Wiens, Rolf Becker: Sonographic malformation diagnostics - teaching atlas of fetal ultrasound examination . 2002, ISBN 3-13-129651-8 .
• Rolf Becker, Walter Fuhrmann, Wolfgang Holzgreve u. a .: Prenatal diagnosis and therapy - human genetic counseling, etiology and pathogenesis of malformations, invasive, non-invasive and sonographic diagnosis as well as therapy in utero . 1995, ISBN 3-8047-1357-2 .
• Klaus Meinel, Christian Wilhelm, Christof Sohn, Klaus Welt: Fetal Sonoanatomy. Screening Atlas 1993, ISBN 3-7691-0286-X .
• Franziska Voigt, Matthias W. Beckmann, Tamme W. Goecke: Soft markers and serum biochemistry - pregnancy between risk and (un) certainty. Frauenheilkunde up2date 2 (2011), pp. 74-84, doi : 10.1055 / s-0031-1271422

Individual evidence

1. ↑ ^{a b} Study by the University of Lübeck : A. Geipel, U. Germer, T. Welp, E. Schwinger, U. Gembruch: Prenatal diagnosis of single umbilical artery: determination of the absent side, associated anomalies, Doppler findings and perinatal outcome. In: Ultrasound in Obstetrics & Gynecology . 15 (2000), pp. 114-117, doi : 10.1046 / j.1469-0705.2000.00055.x
2. ↑ ^{a b} L. Murphy-Kaulbeck, L. Dodds, KS Joseph, M. Van den Hof: Single umbilical artery risk factors and pregnancy outcomes. In: Obstet Gynecol. 116 (2010), pp. 843-850, PMID 20859147
3. ↑ : I. Weinert: The Singular Umbilical Artery - Historical Aspects, Comorbidities and Perinatal Outcome. FU Berlin, October 11, 2005, accessed on October 27, 2011 . 

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !