Percutaneous umbilical blood sampling Down syndrome

Percutaneous umbilical blood sampling: Results from a multicenter collaborative registry*

Author links open overlay panelDurlin E.HickokMD, MPHaPersonMarlinMillsMDbWestern Collaborative Perinatal Group

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Percutaneous umbilical blood sampling has become an important diagnostic tool in the evaluation of fetal health. Although recent reports have established the safety of this procedure, most have arisen from single centers with extensive experience. The Western Perinatal Collaborative Group has maintained a continuous registry of percutaneous umbilical blood sampling performed at the 13 member institutions for the years 1986 through 1990. During this period 302 procedures were performed. Primary indications for percutaneous umbilical blood sampling included Rh and non-Rh isoimmunization, intrauterine growth retardation, nonimmune hydrops, fetal anomalies, immune thrombocytopenia purpura, and rapid fetal chromosome analysis. Percutaneous umbilical blood sampling was successfully performed in 93.7% of cases with a sample withdrawn by a single puncture in 80.5% of attempts. In the majority of cases a 22-gauge needle was used. Postprocedural fetal death resulted in six cases (2.1%) and was most often associated with fetal anomalies or an abnormal karyotype. In conclusion, evaluation of the fetal state by percutaneous umbilical blood sampling is a safe and easily performed procedure, as demonstrated by a collaborative multicenter study.

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Key words

Percutaneous umbilical blood sampling

fetal anomalies

Rh isoimmunization

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*

Presented at the Fifty-eighth Annual Meeting of the Pacific Coast Obstetrical and Gynecological Society, Ashland, Oregon, September 9–12, 1991.

a

From the Center for Pennatal Studies, Swedish Hospital Medical Center and Departments of Epidemiology and Obstetrics and Gynecology, University of Washington

Cordocentesis is an invasive prenatal procedure. It can obtain a sample of blood from a fetus’s umbilical cord to detect blood disorders, infections and genetic mutations. It can also be used to deliver medications or blood transfusions to a fetus. The procedure can cause complications, such as early delivery by emergency C-section or miscarriage.

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Overview

What is cordocentesis?

Cordocentesis is a prenatal test that takes a sample of blood from a fetus’s umbilical cord to detect abnormalities. It can diagnose certain problems before a baby is born, such as genetic mutations (changes), blood diseases and infections. In addition, the procedure can deliver medications or blood transfusions to a fetus through the umbilical cord.

It’s also called percutaneous umbilical cord blood sampling (PUBS) or funipuncture.

Why is cordocentesis performed?

Routine prenatal testing includes prenatal ultrasonography and blood work. If noninvasive prenatal testing reveals a possible problem, your healthcare provider may recommend invasive testing, such as amniocentesis or chorionic villus sampling.

If results still aren’t clear, your healthcare provider may suggest cordocentesis.

What does cordocentesis test for?

The test can help diagnose certain conditions in a fetus:

  • Anemia, a low number of healthy red blood cells.
  • Thrombocytopenia, a low number of platelets (blood particles that help with clotting).
  • Blood disorders such as fetal hemolytic disease, when red blood cells break down quickly.
  • Chromosomal abnormalities (inherited or random genetic mutations), such as Down syndrome.
  • Infection, such as toxoplasmosis or rubella.
  • Isoimmunization, when a pregnant person’s blood isn’t compatible with the fetus’s.

When is cordocentesis performed?

Healthcare providers perform cordocentesis any time after the 17th week of pregnancy.

Who performs the cordocentesis procedure?

The procedure occurs in an office or hospital, usually by an obstetrician, a specialist in pregnancy and childbirth.

Is cordocentesis invasive?

Cordocentesis is an invasive procedure. It’s used only after other types of testing don’t provide enough information.

Test Details

How do I prepare for cordocentesis?

Your healthcare provider will give you specific instructions to help you prepare for the test. You may have to fast (avoid food and drink, other than water) for several hours in case cordocentesis leads to an emergency C-section.

Your healthcare provider may give you IV antibiotics before the procedure to help prevent infection. They also may take a sample of your blood so they can compare it to the fetus’s blood.

Consider asking a loved one to come to the appointment. They can provide emotional support and drive you home afterward.

What can I expect during cordocentesis?

To perform cordocentesis, a healthcare provider will:

  • Ask you to lie down on an exam table and stay still.
  • Clean your belly.
  • Perhaps administer anesthesia to an area of skin on your abdomen to prevent pain.
  • Apply a gel to your belly and use ultrasound technology to see inside. This will help determine the baby’s position and the location of the umbilical cord to safely guide the procedure.
  • Insert a needle through your abdomen into a blood vessel in the umbilical cord. This may sting or create a feeling of pressure or cramping.
  • Use the needle to draw a small sample of blood.
  • Remove the needle.
  • Send the sample to a lab for testing.

Cordocentesis can also deliver medications or treatments. For example, if a fetus has anemia, the procedure can deliver a blood transfusion.

What can I expect after cordocentesis?

After cordocentesis, your healthcare provider may monitor the fetal heart rate for a short period of time.

You may experience cramping or feel a bit uncomfortable after the test. Consider taking it easy for the rest of the day.

What are the risks of cordocentesis?

Percutaneous umbilical blood sampling is an invasive procedure with significant risk. It can cause miscarriage in about 1 or 2 of every 100 procedures. The test also sometimes leads to early delivery by emergency C-section.

Other risks include:

  • Blood loss in the fetus or the mother.
  • Cord hematoma, when blood collects in the umbilical cord.
  • Slow fetal heart rate.
  • Infection in the fetus or uterus.
  • Premature rupture of membranes, which may lead to early delivery.
  • Separation of the placenta from the uterus.

Results and Follow-Up

When should I know the results of cordocentesis?

The results of cordocentesis are usually available in a few days.

What do the results of cordocentesis mean?

Your healthcare provider and perhaps a genetic counselor will help you understand the results of cordocentesis.

If the results are normal, you may still need several follow-up appointments to monitor your health and the fetus’s health.

If cordocentesis detects a problem, your healthcare provider will discuss treatment options, which vary widely, such as:

  • Medicine to treat infection (antibiotics or antivirals).
  • Blood transfusions to the fetus.
  • Termination of the pregnancy if treatment isn’t possible.

When should I call my healthcare provider after cordocentesis?

After cordocentesis, call your healthcare provider if you experience:

  • Chills.
  • Cramps that don’t get better throughout the day.
  • Decreased fetal movement.
  • Fever.
  • Leaking of amniotic fluid.
  • Vaginal bleeding.

A note from Cleveland Clinic

Cordocentesis is an invasive prenatal procedure. It’s performed to take a sample of blood from a fetus’s umbilical cord to detect certain abnormalities. It can also deliver medications and blood transfusions when needed. If you’re concerned about your fetus’s health, talk to your healthcare provider about the risks and benefits of prenatal testing.

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Last reviewed by a Cleveland Clinic medical professional on 10/31/2022.

References

  • American Pregnancy Association. Cordocentesis: Percutaneous Umbilical Blood Sampling (PUBS). (https://americanpregnancy.org/prenatal-testing/cordocentesis/) Accessed 10/31/2022.
  • Merck Manual [Consumer Version]. Prenatal Diagnostic Testing. (https://www.merckmanuals.com/home/women-s-health-issues/detection-of-genetic-disorders/prenatal-diagnostic-testing#v809041) Accessed 10/31/2022.
  • Moise K. Percutaneous Umbilical Blood Sampling. (https://www.ncbi.nlm.nih.gov/books/NBK232014/) Fetal Research and Applications: A Conference Summary. Washington (DC): National Academies Press (US); 1994. Accessed 10/31/2022.
  • Peddi NC, Avanthika C, Vuppalapati S, Balasubramanian R, Kaur J, N CD. A Review of Cordocentesis: Percutaneous Umbilical Cord Blood Sampling. (https://pubmed.ncbi.nlm.nih.gov/34422463/) Cureus. 2021 Jul 16;13(7):e16423. Accessed 10/31/2022.

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What disorders does percutaneous umbilical blood sampling test for?

Why Is Percutaneous Umbilical Blood Sampling Done?.
needs to quickly check a baby's chromosomes for problems..
is concerned that the baby may have another problem, such as a low blood count, low platelet count, or a thyroid condition..

Is percutaneous umbilical blood sampling safe?

What are the risks and side effects to the mother or baby? Although cordocentesis is considered a safe procedure, it is recognized as an invasive diagnostic test that carries a higher risk of complications to the baby, including death, than other procedures do.

What is the main cause of fetal demise or loss associated with invasive percutaneous umbilical cord sampling?

The presumed causes of pregnancy losses following cordocentesis are: chorioamnionitis, premature rupture of the membranes, fetal exsanguination, severe bradycardia and cord haematoma. The duration and difficulty of the procedure are major risk factors.

Can you tell if a baby has Down syndrome in an ultrasound?

An ultrasound can detect fluid at the back of a fetus's neck, which sometimes indicates Down syndrome. The ultrasound test is called measurement of nuchal translucency. During the first trimester, this combined method results in more effective or comparable detection rates than methods used during the second trimester.