{"id":974,"date":"2026-02-02T15:48:16","date_gmt":"2026-02-02T13:48:16","guid":{"rendered":"https:\/\/gynaikologos-komotini.gr\/elegchos-chromosomikon-anomalion-tou-emvryou\/"},"modified":"2026-04-02T13:00:41","modified_gmt":"2026-04-02T10:00:41","slug":"elegchos-chromosomikon-anomalion-tou-emvryou","status":"publish","type":"page","link":"https:\/\/gynaikologos-komotini.gr\/en\/elegchos-chromosomikon-anomalion-tou-emvryou\/","title":{"rendered":"Chromosomal Abnormality Test of the Fetus"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"974\" class=\"elementor elementor-974 elementor-489\" data-elementor-post-type=\"page\">\n\t\t\t\t<div class=\"elementor-element elementor-element-54d9ce4c e-flex e-con-boxed e-con e-parent\" data-id=\"54d9ce4c\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-6586250c elementor-invisible elementor-widget elementor-widget-heading\" data-id=\"6586250c\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">Chromosal Abnormality Test of the Fetus<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-59137345 elementor-invisible elementor-widget elementor-widget-heading\" data-id=\"59137345\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Nuchal translucency, the first &amp; very important prenatal diagnostic test<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f45ef8e elementor-invisible elementor-widget elementor-widget-heading\" data-id=\"f45ef8e\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Trust the Obstetrician-Gynecologist <br>\nAlexandros Maina, certified FMF doctor<\/h3>\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-79b80d67 e-flex e-con-boxed e-con e-parent\" data-id=\"79b80d67\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-6d8a2e3a e-con-full e-flex e-con e-child\" data-id=\"6d8a2e3a\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-2f6b376c elementor-widget-divider--view-line elementor-invisible elementor-widget elementor-widget-divider\" data-id=\"2f6b376c\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"divider.default\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-35cf158d e-flex e-con-boxed e-con e-parent\" data-id=\"35cf158d\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-2e8bd75f e-con-full e-flex e-con e-child\" data-id=\"2e8bd75f\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t<div class=\"elementor-element elementor-element-398cea93 elementor-widget-divider--view-line elementor-invisible elementor-widget elementor-widget-divider\" data-id=\"398cea93\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"divider.default\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-6d3ec5e5 e-flex e-con-boxed e-con e-parent\" data-id=\"6d3ec5e5\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-4858ba44 e-con-full e-flex e-con e-child\" data-id=\"4858ba44\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-949762d elementor-widget elementor-widget-mfn_tabs\" data-id=\"949762d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"mfn_tabs.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"jq-tabs tabs_wrapper tabs_vertical\"><ul><li><a href=\"#tab-6a0aad197a062-1\">Why should chromosomal abnormalities be screened in pregnancy?<\/a><\/li><li><a href=\"#tab-6a0aad197a062-2\">Screening based on the mother's age<\/a><\/li><li><a href=\"#tab-6a0aad197a062-3\">Screening based on maternal biochemical markers<\/a><\/li><li><a href=\"#tab-6a0aad197a062-4\">Measurement of  nuchal translucency<\/a><\/li><\/ul><div id=\"tab-6a0aad197a062-1\" ><p>Chromosomal abnormalities are the main cause of perinatal mortality and disability in childhood. The only way to diagnose them is by the examination of the number and the structure of the chromosomes (karyotype) by taking a trophoblastic tissue sample (biopsy-CVS) or a fetal amniotic fluid sample (amniocentesis). However, because both methods are invasive and have a certain risk for miscarriage (1%), are applied to women at increased risk only.<\/p><p>In the 1970s the screening of this risk was based on the mother's age. In the 1980s in the 2nd trimester the maternal age, biochemical markers, and detailed ultrasound (genetic) of the fetus were used. In the 1990s, the screening was directed toward\u00a0 the first trimester of pregnancy when it was observed that the majority of embryos with chromosomal abnormalities could be detected by measuring their neck thickness (nuchal translucency) and the measurement of\u00a0 two new biochemical markers (\u03b2-HCG , PAPP-A) in the mother's blood. Over the past 10 years, additional ultrasound markers have been described that improve the sensitivity of the screening\u00a0 and reduce the false positive results and the number of pregnant women who will be unnecessarily submitted to an invasive test.<\/p><\/div><div id=\"tab-6a0aad197a062-2\" ><p>It is known that, the risk of chromosomal abnormality increases, as the age of the mother increases whereas the chromosomal abnormal fetus has a greater risk of miscarriage than normal, with the progress of pregnancy. However, in the 1970s, the women over the age of 35 were 5% of the population and this group contained the 30% of fetuses with chromosomal abnormalities, whereas today the 20% of pregnant women are over the 35 years old and this group contains the 50% of the chromosomal abnormalities. Thus a policy of selection of the pregnant women in high risk based only on maternal age is incorrect as most of the pathological fetuses (35%) are in women under the age of 35, which was the cut off for an invasive test.<\/p><\/div><div id=\"tab-6a0aad197a062-3\" ><p>In pregnancies with chromosomal abnormalities has been shown that the concentrations of various embryo-placental products are different compared to normal embryo pregnancies. The measurement of these products as known maternal biochemical markers in the second trimester increases the detection of fetuses with chromosomal abnormalities from 35%, when is using only the age to 60-65% when is using the AFP &amp;\u03b2-HCG (double test) to 65-70% the uE3 (triple test) and to 70-75%\u00a0 the\u00a0 inhibin A (quadruple).<\/p><p>However, in the last decade we made an attempt to incorporate the biochemical markers in the screening of the first trimester. In particular, we found that the beta-HCG in fetus with trisomy 21 was twice as high as in normal, whereas PAPP-A was the half in those with trisomy 21 compared to normal. Incorporation of the above markers increases the detection rate of abnormal chromosomal embryos by 30% based on age to 60-65%. In recent years, new placental products have been incorporated as PLGF which is lower in embryos with chromosomal abnormality and the AFP also. These new markers increase the sensitivity to 80%.<\/p><\/div><div id=\"tab-6a0aad197a062-4\" ><p>In 1866 Langdon Down noticed that the skin of individuals with trisomy 21 was thicker than normal. In 1992 Prof. K. Nicolaides discovered that this thickness can be observed by ultrasound in the 3rd month of pregnancy as accumulation of fluid in the neck of the fetus so called nuchal translucency. Over the last 20 years, extensive studies have been conducted where it has been shown that increased nuchal translucency is directly related to chromosomal abnormalities, cardiac defects and some fetal genetic syndromes. Thus its measurement is now applied to all pregnancies between 11-14 weeks according to certain protocol so that the result is reliable.<\/p><p>Over the past two years, except the known nasal bone new ultrasound markers have been added to the above combination such as the ductus venosus flow and the regurgitation of the tricuspid valve of the fetal heart. It is known that the pathological findings in the above markers are observed in fetuses with trisomy 21 at 60, 65, 55% respectively, while in normal embryos at 2.5, 3 and 1%.<\/p><\/div><\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-1b8fab20 e-flex e-con-boxed e-con e-parent\" data-id=\"1b8fab20\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-2e15c64 e-con-full e-flex e-con e-child\" data-id=\"2e15c64\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-3b75a75 elementor-invisible elementor-widget elementor-widget-heading\" data-id=\"3b75a75\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">What will include chromosomal abnormality screening and when to do it?<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5d83b35 elementor-invisible elementor-widget elementor-widget-text-editor\" data-id=\"5d83b35\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>Given the above observations, the combined test proposed to each woman for screening chromosomal abnormalities is the follow:<\/p><p>During the period of 11-14 weeks of gestation, an ultrasound scan of the fetus should be performed by a certified FMF doctor in order to:<\/p><ul><li>Measure accurately the length of the fetus (CRL) to determine the age of pregnancy<\/li><li>Examine the fetus for any anatomical anomaly identified in the first trimester of pregnancy<\/li><li>Measure the nuchal translucency and the heart rate of the fetus<\/li><li>Measure the flow resistance (PI) in the ductus venosus of the fetus<\/li><li>Examine for regurgitation of the tricuspid valve<\/li><li>Identify the presence or the absence of the fetal nasal bone<\/li><\/ul><p>Additionally, will be must:<\/p><ul><li>Measured the biochemical markers in the mother&#8217;s blood<\/li><li>Measured by ultrasound the cervical length for the calculation of the risk of preterm delivery, and the maternal uterine arteries resistance for the risk of pre-eclampsia and the intrauterine growth retardation.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-3260bb44 e-con-full e-flex e-con e-child\" data-id=\"3260bb44\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-ed285ac elementor-invisible elementor-widget elementor-widget-image\" data-id=\"ed285ac\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"image.default\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"640\" height=\"480\" src=\"https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/abnormalities-auheniki-diafaneia.jpg\" class=\"attachment-large size-large wp-image-975\" alt=\"\" srcset=\"https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/abnormalities-auheniki-diafaneia.jpg 640w, https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/abnormalities-auheniki-diafaneia-500x375.jpg 500w, https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/abnormalities-auheniki-diafaneia-300x225.jpg 300w, https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/abnormalities-auheniki-diafaneia-100x75.jpg 100w, https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/abnormalities-auheniki-diafaneia-480x360.jpg 480w\" sizes=\"(max-width:767px) 480px, 640px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-a86431d e-flex e-con-boxed e-con e-parent\" data-id=\"a86431d\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-77565d1 e-con-full e-flex e-con e-child\" data-id=\"77565d1\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-4ef0934 elementor-invisible elementor-widget elementor-widget-image\" data-id=\"4ef0934\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"image.default\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"245\" height=\"262\" src=\"https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/198500-nt_schematic.jpg\" class=\"attachment-large size-large wp-image-979\" alt=\"\" srcset=\"https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/198500-nt_schematic.jpg 245w, https:\/\/gynaikologos-komotini.gr\/wp-content\/uploads\/2026\/02\/198500-nt_schematic-70x75.jpg 70w\" sizes=\"(max-width:767px) 245px, 245px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-10da074 e-con-full e-flex e-con e-child\" data-id=\"10da074\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-c2632d9 elementor-invisible elementor-widget elementor-widget-text-editor\" data-id=\"c2632d9\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p><strong>When a pregnant woman has an increased risk for a chromosomal abnormality?<\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c2165a1 elementor-invisible elementor-widget elementor-widget-text-editor\" data-id=\"c2165a1\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>According to the results of the above combined screening test, a pregnant woman is classified in a high risk group (1.4% of the total population) for a chromosomal abnormality if the probability that will occur is greater than 1\/10. This group contains the 80% of fetuses with a chromosomal abnormality (80% trisomy 21 and 95% with trisomy 13 and 18) and must have an invasive test.<\/p><p>If the risk (moderate) is between 1\/10-1\/1000 this group is found in the 25% of the population and contains the rest of 19% of chromosomal abnormalities and must be followed by an non-invasive prenatal test (cfDNA) in the mother&#8217;s blood .Finally in the low risk group (75% of the population) the mother must be reassured that her baby is normal and must be looking for the ultrasound markers of chromosomal abnormalities in the anomaly scan of the second trimester.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-133a7421 e-con-full e-flex elementor-invisible e-con e-parent\" data-id=\"133a7421\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;video&quot;,&quot;background_video_link&quot;:&quot;https:\\\/\\\/youtu.be\\\/TMZtZtylxI4&quot;,&quot;background_play_on_mobile&quot;:&quot;yes&quot;,&quot;background_privacy_mode&quot;:&quot;yes&quot;,&quot;animation&quot;:&quot;fadeIn&quot;}\">\n\t\t<div class=\"elementor-background-video-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-background-video-embed\" role=\"presentation\"><\/div>\n\t\t\t\t\t\t<\/div><div class=\"elementor-element elementor-element-1c4d33df e-con-full e-flex e-con e-child\" data-id=\"1c4d33df\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t<div class=\"elementor-element elementor-element-7dbcf5c1 elementor-widget__width-initial elementor-widget elementor-widget-text-editor\" data-id=\"7dbcf5c1\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>Obstetrician-Gynecologist Alexandros Mainas, in Komotini,<br \/>has been certified by the London Institute of Fetal Medicine,<br \/>to perform complete prenatal ultrasound examination of the fetus.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-37b9323e elementor-widget elementor-widget-button\" data-id=\"37b9323e\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/en\/epikoinonia\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon\">\n\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-arrow-right\" viewBox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M190.5 66.9l22.2-22.2c9.4-9.4 24.6-9.4 33.9 0L441 239c9.4 9.4 9.4 24.6 0 33.9L246.6 467.3c-9.4 9.4-24.6 9.4-33.9 0l-22.2-22.2c-9.5-9.5-9.3-25 .4-34.3L311.4 296H24c-13.3 0-24-10.7-24-24v-32c0-13.3 10.7-24 24-24h287.4L190.9 101.2c-9.8-9.3-10-24.8-.4-34.3z\"><\/path><\/svg>\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Make an appointment with the doctor<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Chromosal Abnormality Test of the Fetus Nuchal translucency, the first &amp; very important prenatal diagnostic test Trust the Obstetrician-Gynecologist Alexandros Maina, certified FMF doctor Why should<span class=\"excerpt-hellip\"> [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":-1,"parent":0,"menu_order":0,"comment_status":"open","ping_status":"open","template":"elementor_header_footer","meta":{"footnotes":""},"class_list":["post-974","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Chromosomal Abnormality Test of the Fetus | Alexandros Mainas MD Ph.D<\/title>\n<meta name=\"description\" content=\"Cervical Translucency. 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