The objective of the NEK-study is the clinical relevance of increased nuchal translucency in fetuses with a CRL =2.5mm. Expectant parents can receive better counselling for their ongoing pregnancy if the clinical relevance is clear.
ID
Source
Brief title
Condition
- Neonatal and perinatal conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The incidence of chromosomal anomalies detected prenatally and after birth, in
fetuses with normalized NT and fetuses with persistent increased NT
Secondary outcome
The incidence of structural anomalies, perinatal loss and composite abnormal
outcome (defined as diagnosed chromosomal anomalies, single gene disorders,
structural anomalies, perinatal loss or deceased during follow-up period),
compared in fetuses with normalized NT and fetuses with persistent increased
NT. The proportion of fetuses in which the NT normalizes after 11 weeks of
gestation. The incidence of congenital anomalies not detected by NIPT. The
incidence of structural anomalies at the 13 weeks scan, 20 weeks scan and after
birth.
Pregnancy outcomes such as pregnancy loss before 24 weeks of gestation,
intra-uterine death or neonatal death before hospital discharge. In specific we
will regard also perinatal outcomes as: number of terminations of pregnancy,
stillbirths, mean gestational age at birth, birthweight and APGAR-scores.
Background summary
In the current guideline the cut-off point of NT-measurement is based on the
p99 value of the normal distribution in the population, thus the incidence of
increased NT-measurement is 1%. A recent Dutch study in 1901 fetuses revealed a
21% abnormality rate for fetuses with NT between 95th and 99th percentile and
62% for fetuses with NT>=99th percentile. In this population, the incidence of
chromosomal anomalies was 43.2%, increasing with increasing magnitude of the
NT-measurement. In contrast, little is known about the meaning of an increased
NT at a CRL below 45mm, thus below 11 weeks* pregnancy. Currently, when an
increased nuchal translucency is observed before 11 week*s pregnancy,
ultrasonographers are advised to repeat the ultrasound examination and NT
measurement in the correct timeframe above 11 weeks. In the case the NT
normalises, women can opt for prenatal screening such as the combined screening
test or a non-invasive prenatal test (NIPT) to test for the most common
aneuploidies such as trisomy 21, 18 and 13. Those cases with still an increased
NT are referred for further counselling in a fetal medicine unit and will be
offered chorionic villus sampling for genetic testing. At present, it is
unclear in which percentage of fetuses NT will normalize and how many women are
referred to a fetal medicine unit. Moreover, it is unclear if fetuses in which
the NT normalises after 11 weeks* pregnancy will develop normally throughout
pregnancy and after birth. Therefore, the meaning of an increased early nuchal
translucency is unclear and thus far, not much information is available for
parents with such a finding
Study objective
The objective of the NEK-study is the clinical relevance of increased nuchal
translucency in fetuses with a CRL <45mm and NT measurement of >=2.5mm.
Expectant parents can receive better counselling for their ongoing pregnancy if
the clinical relevance is clear.
Study design
The design is a prospective multicenter cohort study.
Study burden and risks
There are no known risks to extra ultrasonographic scanning. All patients will
receive standard obstetric care. Patients who want to participate will receive
an additional scan between 11-13 weeks.
Meibergdreef 9
Amsterdam 1105AZ
NL
Meibergdreef 9
Amsterdam 1105AZ
NL
Listed location countries
Age
Inclusion criteria
1. Singleton or twin pregnancies
2. Ultrasound with viable fetus(es) with a CRL between 20-45mm
AND
3. Nuchal translucency measurement >=2.5mm or increased NT with *eyeballing*
4. Written informed consent
Exclusion criteria
1. Maternal age < 16 year
2. Insufficient knowledge of English or Dutch language to comprehend the
patient information and consent form
3. Cases of parents with recognized medical history for monogenetic disease or
known carriers of a balanced translocation, deletion or duplication
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
In other registers
| Register | ID |
|---|---|
| CCMO | NL74879.018.21 |
| OMON | NL-OMON23541 |